Allele Registry

Canonical Allele Identifier: PA121792

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV003460460

RCV003534309

ClinVar Variation:

11938

HGVS (amino-acid)	Matching Registered Transcripts
NP_000047.1:p.His206Tyr	CA121791 NM_000056.5:c.616C>T