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Canonical Allele Identifier: Get Identifier
Gene: PDHA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000512824.1:p.[Thr139delinsGlnValProLeu;Pro142_Trp145delinsGlyIleAlaLeuAlaCysLysTyrAsnGlyLys;Asp146_Cys147insGluVal;Ser148_Ser149delinsLeuThr;Leu150_Ter151insTyrGlyAspGlyAla]
CA2579566226
ENST00000696705.1:c.414del