Allele Registry

Canonical Allele Identifier: PA224240

Gene: BCKDHB HGNC NCBI

ClinVar Variation Id: 96564

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Cys349Tyr	CA224238 NM_183050.3:c.1046G>A