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
ENSP00000514947.1:p.Gln371His	CA390305589 ENST00000700320.1:c.1113G>C CA390305590 ENST00000700320.1:c.1113G>T