Allele Registry

Canonical Allele Identifier: PA224267

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

102469

ClinVar RCV:

RCV000177427

RCV001162146

ClinVar Variation:

96576

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Gly101Asp	CA224266 NM_000056.5:c.302G>A