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
ENSP00000385948.1:p.Gly117Arg
CA225069
ENST00000406768.1:c.349G>A
CA390299401
ENST00000406768.1:c.349G>C