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
ENSP00000514988.1:p.Thr16Ser	CA390303474 ENST00000700437.1:c.46A>T CA390303481 ENST00000700437.1:c.47C>G