Allele Registry

Canonical Allele Identifier: PA224342

Gene: BCKDHB HGNC NCBI

ClinVar Allele:

102501

ClinVar RCV:

RCV000180018

RCV000586350

RCV000790839

ClinVar Variation:

96608

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.Val251Ala	CA224341 NM_000056.5:c.752T>C