Allele Registry

Canonical Allele Identifier: PA224237

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000180715

RCV001052144

ClinVar Variation:

96563

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Ser339Leu	CA224235 NM_183050.3:c.1016C>T