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: PA915992971

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 91627

ClinVar RCV Id: RCV000077144 RCV000817619 RCV001022192

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009230.2:p.Gln321His	CA002744 NM_007299.4:c.963G>C CA10593178 NM_007299.4:c.963G>T