Allele Registry

Canonical Allele Identifier: PA093378

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000082749

RCV000179047

ClinVar Variation:

96591

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Arg170His	CA224304 NM_000056.5:c.509G>A