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Canonical Allele Identifier: Get Identifier
Gene: PNKP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000473137.1:p.[Leu445delinsMetAlaThrGlySerSerSerArgPro;Glu447delinsArgTrpLeuLys;Val449delinsSerLeuProSerTrp;Arg450_Gly451insSerArgSer;Pro452_Ala454delinsTyrGlyTrpSerArg]
CA2586460361
ENST00000600910.5:c.1329_1332dup