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
ENSP00000514966.1:p.Asn316Lys	CA390305048 ENST00000700375.1:c.948T>G CA390305049 ENST00000700375.1:c.948T>A