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
ENSP00000514950.1:p.Asn312Lys	CA390304992 ENST00000700323.1:c.936T>G CA390304994 ENST00000700323.1:c.936T>A