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
ENSP00000452477.1:p.Ser39Arg	CA390302551 ENST00000553599.5:c.115A>C CA390302557 ENST00000553599.5:c.117C>A CA390302558 ENST00000553599.5:c.117C>G