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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000269980.2:p.[Tyr279_Gly288delinsIleAlaAlaMetAlaLeuGlnHisGluAla;Tyr291_Asn308delinsMetAlaSerCysGlnSerAlaTrpMetValMetMetCysLeuProTyrThrThr]
CA9461266
ENST00000269980.7:c.835del