Allele Registry

Canonical Allele Identifier: PA224284

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000179046

ClinVar Variation:

96584

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Glu163Val	CA224283 NM_000056.5:c.488A>T