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
ENSP00000514932.1:p.Glu60Asp
CA390302837
ENST00000700305.1:c.180G>T
CA390302840
ENST00000700305.1:c.180G>C