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
ENSP00000504410.1:p.[Ile122_Gly125delinsSerLeuLysVal;Glu127_Ala134delinsSerLeuGluGluGlnSerGlyPro;Ser136_Ile137delinsAla;Pro139Ala;Pro141_Leu151delinsCysLeuLeuProGlnHisLeuHisAlaIleHis]
CA2962391530
ENST00000676907.1:c.364del