Allele Registry

Canonical Allele Identifier: PA916024154

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

384484

ClinVar RCV:

RCV000449606

ClinVar Variation:

397609

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Thr52Asn	CA16609445 NM_001318975.1:c.155C>A