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
ENSP00000514934.1:p.Thr294Ser	CA390305369 ENST00000700307.1:c.880A>T CA390305370 ENST00000700307.1:c.881C>G