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
ENSP00000452477.2:p.Arg304Ser	CA390304941 ENST00000553599.6:c.912A>C CA390304943 ENST00000553599.6:c.912A>T