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: PA2829710289

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55548

ClinVar RCV Id: RCV000077619 RCV003584536 RCV003105785

ClinVar Variation Id: 865657

ClinVar RCV Id: RCV001073118

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009231.2:p.Cys1808Ser	CA003525 NM_007300.4:c.5422T>A CA10590745 NM_007300.4:c.5423G>C