Allele Registry

Canonical Allele Identifier: PA2825039465

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000429032

RCV000675115

ClinVar Variation:

390609

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Val213Phe	CA16604994 NM_000056.5:c.637G>T