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
ENSP00000450652.1:p.Ser43Arg	CA390302551 ENST00000555254.5:c.127A>C CA390302557 ENST00000555254.5:c.129C>A CA390302558 ENST00000555254.5:c.129C>G