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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.[Tyr192_Glu209delinsGlnProSerGlyProMetProThrGlySerSerSerValThrSerAlaArg;Ala211_Glu214delinsGlnProValArg;Asp216_Asn222delinsThrProMetProAlaSerThr]
CA312364
ENST00000542943.5:c.574_577del