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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000427806.1:p.[Ser92Cys;Leu94_Leu97delinsHisGlyProSer;Phe99_Leu103delinsHisGlnValPro;Glu105_Trp109delinsArgValValArg;Ile111_Leu112del;Ala114_Leu120delinsHisProGlyArgHisLeuCys]
CA2574009259
ENST00000472139.2:c.274_275del