DocsCatalogPricing
Sign inStart research
Back to catalog
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.

AvailableCortexa

Schema

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

View JSON schemaExpandCollapse
JSON · 12 lines · 351 chars

Examples (1)

Default ClinGenAR Lookup Allele call

Public-safe example · rate-limited

JSON input · 3 lines · 36 chars
Expected response keys: success

Identifiers

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

The agent for research teams. 1.4K+ research tools across scientific and professional fields, with sources attached to the claims they support.

Product

  • Documentation
  • Integrations
  • Tool catalog
  • Pricing

Get started

  • Start research
  • Sign in
  • Developer API
  • MCP server

Support

  • Help center
  • Contact us
  • Terms of Service
  • Privacy Policy

© 2026 Cortexa. All rights reserved.

TermsPrivacy·For research context only · Not medical, legal, or financial advice.