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.Asp84Glu
CA390302655
ENST00000700316.1:c.252C>G
CA487255696
ENST00000700316.1:c.252C>A