Allele Registry

Canonical Allele Identifier: PA224366

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000346636

RCV000790833

ClinVar Variation:

96622

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Leu325Arg	CA224365 NM_000056.5:c.974T>G