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
ENSP00000514934.1:p.Met265Ile
CA390304797
ENST00000700307.1:c.795G>A
CA390304798
ENST00000700307.1:c.795G>C
CA390304799
ENST00000700307.1:c.795G>T