Allele Registry

Canonical Allele Identifier: PA916024162

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV000179046

ClinVar Variation:

96584

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305904.1:p.Glu93Val	CA224283 NM_001318975.1:c.278A>T