Allele Registry

Canonical Allele Identifier: PA658800676

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000625823

RCV002271540

ClinVar Variation:

522678

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Arg315Trp	CA9461307 NM_000709.4:c.943C>T