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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.[Asn405_Met415delinsThrTyrSerSerGlnThrCysIleArgArgCys;Ala417_Glu424delinsProSerSerAlaSerSerArg;Ala427_Gly434delinsTrpProAlaThrCysArgProThr]
CA2585308446
NM_001164783.2:c.1212del