Cortexa research tool·genomics·mutalyzer

Mutalyzer Normalize Variant

Validate and normalize an HGVS variant description using Mutalyzer. Returns the corrected/normalized HGVS notation, predicted protein effect, RNA description, and gene symbol. Essential for clinical variant interpretation - ensures HGVS nomenclature compliance and predicts amino acid changes. Accepts coding DNA (c.), genomic (g.), protein (p.), or RNA (r.) variant descriptions. Example: 'NM_003002.4:c.274G>T' normalizes to a SDHD missense variant with protein prediction p.(Asp92Tyr).

Livelast probed 2026-04-30 23:07Z· 126msCortexa

Status

The most recent probe succeeded. Safe to call from the agent today.

Last probed: 1d ago
Last success: 1d ago
Last latency: 126ms

Schema

JSON Schema the agent (or your API call) must match.

{
  "properties": {
    "variant": {
      "description": "HGVS variant description. Examples: 'NM_003002.4:c.274G>T' (SDHD missense), 'NM_000546.6:c.215C>G' (TP53 p.Pro72Arg), 'NM_000059.4:c.7397C>T' (BRCA2). Format: reference:coordinate_system.change",
      "type": "string"
    }
  },
  "required": [
    "variant"
  ],
  "type": "object"
}

Examples (1)

Default Mutalyzer Normalize Variant call

public-safeinput

{
  "variant": ""
}

Expected response keys: success

Anonymous-safe example. Rate-limited; no sign-in required.

Identifiers

Catalog ID: tu_Mutalyzer_normalize_variant
Tool name: Mutalyzer_normalize_variant
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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