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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).

AvailableCortexa

Schema

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

JSON · 12 lines · 344 chars

Examples (1)

Default Mutalyzer Normalize Variant call

public-safeinput
JSON · 3 lines · 19 chars
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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