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_001305904.1:p.[Tyr125_His126delinsLeu;Gln128Phe;Pro130del;Ala132_Arg146del;Pro148_Gly153del;Leu156del]
CA916082890
NM_001318975.1:c.373dup