Allele Registry

Canonical Allele Identifier: PA2827026739

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000180715

RCV001052144

ClinVar Variation:

96563

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Ser269Leu	CA224235 NM_001318975.1:c.806C>T