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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;Leu333del;Arg335_Ile336delinsAla;His338_Ser340delinsSerGlyThr;Ser342_Tyr348delinsAlaProValThrThrValGln;Ser350_Gln360delinsThrAlaArgTrpMetArgSerIleThrGlyIleAsn]
CA2585308213
ENST00000457836.6:c.990del