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Canonical Allele Identifier: Get Identifier
Gene: PNKP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000323511.2:p.[Ala441_Val443delinsGlu;Cys445del;Cys447_Thr451delinsAlaSerProAlaAla;Thr453_Asn461delinsSerSerSerProProLeuTrpSerArg;Phe463_Ser470delinsAlaThrThrThrGlyPheGluArg]
CA251238
ENST00000322344.8:c.1317_1321dup