Allele Registry

Canonical Allele Identifier: PA121795

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV003534310

ClinVar Variation:

11939

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Val119Gly	CA121794 NM_000056.5:c.356T>G