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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514943.1:p.Ser103_Ter104insCysHis
CA390303026
ENST00000700316.1:c.312A>C
CA390303030
ENST00000700316.1:c.312A>T