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: PA2829692500

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 489714

ClinVar RCV Id: RCV000581090

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009228.2:p.Glu1045Asp	CA057993 NM_007297.4:c.3135G>T CA10595437 NM_007297.4:c.3135G>C