Allele Registry

Canonical Allele Identifier: PA224239

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000173927

RCV000790712

RCV001831887

ClinVar Variation:

96564

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Cys349Tyr	CA224238 NM_000056.5:c.1046G>A