Allele Registry

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: PSEN1 HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000514947.1:p.Ser299Ter	ENST00000700320.1:c.[894del;896C>T] ENST00000700320.1:c.[894del;896C>T;898A=]... ENST00000700320.1:c.[894del;896C>T;898A>G... ENST00000700320.1:c.896C>A ENST00000700320.1:c.896C>G ENST00000700320.1:c.[896_982del;984C>A]