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 allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2499245302

Gene: BARD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062364

ClinVar RCV Id: RCV001372069

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269472.1:p.Asn94Lys	CA350460824 NM_001282543.2:c.282T>G CA350460826 NM_001282543.2:c.282T>A