Allele Registry

Canonical Allele Identifier: PA224296

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

102481

ClinVar RCV:

RCV000179040

ClinVar Variation:

96588

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Arg170Ser	CA224295 NM_000056.5:c.508C>A