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
ENSP00000514933.1:p.Glu330Asp	CA390305388 ENST00000700306.1:c.990G>C CA390305389 ENST00000700306.1:c.990G>T