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
ENSP00000514951.1:p.Met135Leu	CA390304931 ENST00000700324.1:c.403A>T CA390304932 ENST00000700324.1:c.403A>C