Allele Registry

Canonical Allele Identifier: PA3057568893

Gene: BCKDHB HGNC NCBI

ClinVar RCV:

RCV004690540

RCV005038771

ClinVar Variation:

3335960

HGVS (amino-acid)	Matching Registered Transcripts
NP_898871.1:p.Arg183Gly	CA3902649 NM_183050.3:c.547C>G