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: PA2829680784

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 939064

ClinVar RCV Id: RCV001208392

ClinVar Variation Id: 1442079

ClinVar RCV Id: RCV001969784 RCV002258336

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009225.1:p.Thr1051_Ser1057del	CA058103 NM_007294.4:c.3141_3161del CA1139665619 NM_007294.4:c.3152_3172del