Allele Registry

Canonical Allele Identifier: PA224305

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000082749

RCV000179047

ClinVar Variation:

96591

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Arg170His	CA224304 NM_183050.3:c.509G>A