Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2829721102

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 954381

ClinVar RCV Id: RCV001226829 RCV003158556

ClinVar Variation Id: 1721824

ClinVar RCV Id: RCV002295057 RCV003157188

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Asn1045Lys	CA10595712 NM_007300.4:c.3135T>G CA10595713 NM_007300.4:c.3135T>A