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
ENSP00000326366.5:p.Glu72Asp	CA390303006 ENST00000324501.9:c.216G>C CA390303009 ENST00000324501.9:c.216G>T