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
ENSP00000514949.1:p.Arg318Ser	CA390305337 ENST00000700322.1:c.954G>T CA390305338 ENST00000700322.1:c.954G>C