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
ENSP00000514947.1:p.Trp165Arg
CA390295956
ENST00000700320.1:c.493T>A
CA390295959
ENST00000700320.1:c.493T>C