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
ENSP00000514944.1:p.Gln56His	CA390302701 ENST00000700317.1:c.168G>C CA390302704 ENST00000700317.1:c.168G>T