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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000416000.2:p.[Leu331Cys;Leu333_Ile336delinsCysAlaGlySer;His338_Ser340delinsThrThrAlaProVal;Ser342_Ser346delinsThrValGlnArgThr;Tyr348delinsArgTrpMet;Val351_Val354delinsIleThrGlyIle;Tyr356_Gln360delinsArg]
CA2585308214
ENST00000457836.6:c.992del