Allele Registry

Canonical Allele Identifier: PA645437921

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000224751

RCV002282065

ClinVar Variation:

235750

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Tyr279Cys	CA9461267 NM_000709.4:c.836A>G