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
ENSP00000452477.1:p.Leu71Phe	CA390303054 ENST00000553599.5:c.213G>C CA390303056 ENST00000553599.5:c.213G>T