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
ENSP00000514904.1:p.Gln454His	CA390306190 ENST00000700268.1:c.1362G>C CA390306191 ENST00000700268.1:c.1362G>T