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: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000416000.2:p.[Pro324_Trp328delinsSerHisThrAspLeu;Pro332_Ser342delinsAlaProValGln;Asp344_Ser346delinsArg;Tyr348_Glu353delinsProGlnHisGln]
CA2585308206
ENST00000457836.6:c.969_970insT