This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Tyr392_Ter393insLeuProTyrArgLysAlaGlyArgLeu
CA365021660
NM_000056.5:c.1178G>T