This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000355746.2:p.[Leu232_Ser236delinsProHisHisAspGlnCys;Leu238_Leu241delinsHisGlyProSer;Phe243_Leu247delinsHisGlnValPro;Glu249_Leu256delinsArgValValArgValGlyHisPro;Ala258_Val261delinsArgHisLeuCys]
CA1424611
ENST00000366782.6:c.694dup