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Canonical Allele Identifier: Get Identifier
Gene: PDHA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000438550.1:p.[Cys225_Val240delinsValPheSerSerValArgIleIleAlaMetGluTrpGluArgLeuLeuArg;Ala243_Ala244delinsGlnPro;Ser246_Asp254delinsLeuIleThrThrArgGluAlaIle]
CA2533482558
ENST00000545074.5:c.673del