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)	Matching Registered Transcripts
ENSP00000514950.1:p.Thr122Ser	CA390304744 ENST00000700323.1:c.364A>T CA390304747 ENST00000700323.1:c.365C>G