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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.[Tyr250_Gly259delinsIleAlaAlaMetAlaLeuGlnHisGluAla;Tyr262_Asn279delinsMetAlaSerCysGlnSerAlaTrpMetValMetMetCysLeuProTyrThrThr]
CA9461266
ENST00000542943.5:c.748del