Allele Registry

Canonical Allele Identifier: PA224236

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000180715

RCV001052144

ClinVar Variation:

96563

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Ser339Leu	CA224235 NM_000056.5:c.1016C>T