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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000504483.1:p.[Ser236Cys;Leu238_Leu241delinsHisGlyProSer;Phe243_Leu247delinsHisGlnValPro;Glu249_Trp253delinsArgValValArg;Ile255_Leu256del;Ala258_Leu264delinsHisProGlyArgHisLeuCys]
CA2574009259
ENST00000676888.1:c.706_707del