Allele Registry

Canonical Allele Identifier: PA2825039384

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

384484

ClinVar RCV:

RCV000449606

ClinVar Variation:

397609

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Thr122Asn	CA16609445 NM_000056.5:c.365C>A