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) Transcript change
ENSP00000515001.1:p.Met255Leu
ENST00000700468.1:c.763A>C

ENST00000700468.1:c.763A>T