Allele Registry

Canonical Allele Identifier: PA354912

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000209422

ClinVar Variation:

224054

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Val98Gly	CA354910 NM_183050.3:c.293T>G