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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.[Leu331_Ser340delinsCysAlaGlySerGlyThrThrAlaProVal;Ser342_Ser346delinsThrValGlnArgThr;Tyr348delinsArgTrpMet;Val351_Val354delinsIleThrGlyIle;Tyr356_His362delinsArgThrThr]
CA2576793863
ENST00000457836.6:c.992_998del