Allele Registry

Canonical Allele Identifier: PA354917

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000209523

ClinVar Variation:

224061

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Thr322Ala	CA354915 NM_183050.3:c.964A>G