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
ENSP00000269980.2:p.[Phe304_Thr310delinsCysArgIleGlnArgHis;Glu312_Arg316delinsGlyGlyProThr;Val318_Gln322delinsGlyCysGlyArgGlu;Phe324Ala;Ile326_Ile333delinsProHisArgGlyHisAspLeuGlnAsp]
CA221226
ENST00000269980.7:c.909_910del