Allele Registry

Canonical Allele Identifier: PA093408

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000056009

RCV000587416

RCV000762424

ClinVar Variation:

65771

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Gly278Ser	CA224347 NM_000056.5:c.832G>A