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
ENSP00000471150.2:p.[Tyr279_Gly288delinsPheAlaAlaMetAlaLeuGlnHisGluAla;Tyr291_Val306delinsMetAlaSerCysGlnSerAlaTrpMetValMetMetCysLeuPro;Thr308_Ala309insGln]
CA406013062
ENST00000595085.5:c.836del