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: PA2829692467

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034478

ClinVar RCV Id: RCV001337208 RCV003158752

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Arg1038Ser	CA10595473 NM_007297.4:c.3114A>T CA10595474 NM_007297.4:c.3114A>C