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
XP_005248813.1:p.[His22_Ala29delinsThrGlyValGlyPheLeuAlaArg;Leu31_Ala32delinsTrp;Gly34_Phe35insAla;Leu36_His37delinsCysThr;Ala39_Gln47delinsProArgLeuSerArgMetArgPro;Arg49_Val51delinsGlyGlyArg]
CA2679496967
XM_005248756.3:c.63del