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Canonical Allele Identifier: Get Identifier
Gene: PNKP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000469826.1:p.[Ala410_Val412delinsGlu;Cys414del;Cys416_Thr420delinsAlaSerProAlaAla;Thr422_Asn430delinsSerSerSerProProLeuTrpSerArg;Phe432_Ser439delinsAlaThrThrThrGlyPheGluArg]
CA251238
ENST00000600573.5:c.1224_1228dup