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: PSEN2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000503673.1:p.Val393Leu	CA345044233 ENST00000677599.1:c.1177G>T CA345044234 ENST00000677599.1:c.1177G>C