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
ENSP00000514970.1:p.Thr118Ser
CA390304744
ENST00000700389.1:c.352A>T
CA390304747
ENST00000700389.1:c.353C>G