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Canonical Allele Identifier: Get Identifier
Gene: PNKP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471097.2:p.[Ala10_Val12delinsGlu;Cys14del;Cys16_Thr20delinsAlaSerProAlaAla;Thr22_Asn30delinsSerSerSerProProLeuTrpSerArg;Phe32_Ser39delinsAlaThrThrThrGlyPheGluArg]
CA251238
ENST00000597965.2:c.24_28dup