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
XP_011535273.1:p.His46Gln	CA390302577 XM_011536971.1:c.138C>A CA390302578 XM_011536971.1:c.138C>G