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.[Tyr199_Glu216delinsGlnProSerGlyProMetProThrGlySerSerSerValThrSerAlaArg;Ala218_Glu221delinsGlnProValArg;Asp223_Asn229delinsThrProMetProAlaSerThr]
CA312364
ENST00000457836.6:c.595_598del