Cortexa research tool·genomics·clingen_ar

ClinGenAR Lookup Allele

Look up a genetic variant in the ClinGen Allele Registry by HGVS notation. Returns the canonical allele identifier (CA ID), community standard title, and cross-references to ClinVar, dbSNP, COSMIC, gnomAD, and other databases. The Allele Registry normalizes variant representations across different coordinate systems and nomenclatures. Example: 'NM_000546.6:c.743G>A' returns CA000387 (TP53 p.Arg248Gln) with links to ClinVar, COSMIC, and gnomAD.

Livelast probed 2026-04-30 23:07Z· 489msCortexa

Status

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

Last probed: 1d ago
Last success: 1d ago
Last latency: 489ms

Schema

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

{
  "properties": {
    "hgvs": {
      "description": "HGVS expression for the variant. Supports coding (c.), genomic (g.), and protein (p.) notations. Examples: 'NM_000546.6:c.743G>A' (TP53 R248Q), 'NC_000017.11:g.7674220C>T', 'NM_000059.4:c.5946delT' (BRCA2).",
      "type": "string"
    }
  },
  "required": [
    "hgvs"
  ],
  "type": "object"
}

Examples (1)

Default ClinGenAR Lookup Allele call

public-safeinput

{
  "hgvs": ""
}

Expected response keys: success

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

Identifiers

Catalog ID: tu_ClinGenAR_lookup_allele
Tool name: ClinGenAR_lookup_allele
Added: 2026-04-30 22:47Z
Tags: tooluniverse

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