Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2829704808

Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54147

ClinVar RCV Id: RCV000111800 RCV000588216

ClinVar Variation Id: 867498

ClinVar RCV Id: RCV001076197

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_009229.2:p.Lys38Asn	CA000763 NM_007298.3:c.114G>T CA10601928 NM_007298.3:c.114G>C