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
ENSP00000514929.1:p.Thr147Ser	CA390305031 ENST00000700302.1:c.439A>T CA390305035 ENST00000700302.1:c.440C>G