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: PA2825241309

Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1943557

ClinVar RCV Id: RCV002650514

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Asp94Glu	CA406005084 NM_000709.4:c.282C>A CA406005086 NM_000709.4:c.282C>G