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
ENSP00000486498.1:p.Val183Leu	CA345330115 ENST00000626989.2:c.547G>T CA345330116 ENST00000626989.2:c.547G>C