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
ENSP00000326366.5:p.Glu48Asp
CA390302590
ENST00000324501.9:c.144G>C
CA390302591
ENST00000324501.9:c.144G>T