This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PDHA1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543834.1:p.[Glu347_Val356delinsAspCysGlnCysGly;Lys358_Ala367del;Ala369_Pro371delinsLysGlyAsn;Pro373_Pro374del;Glu376_Leu378del]
CA2695231661
XM_011545532.1:c.1028_1040dup