Allele Registry

Canonical Allele Identifier: PA2827026549

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000209422

ClinVar Variation:

224054

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Val28Gly	CA354910 NM_001318975.1:c.83T>G