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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440345.1:p.[Ile304Ser;His306_Ser308delinsThrThrAlaProVal;Ser310_Ser314delinsThrValGlnArgThr;Tyr316delinsArgTrpMet;Val319_Val322delinsIleThrGlyIle;Tyr324_Gln328delinsArg]
CA2585308220
ENST00000542943.5:c.910del