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: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000504483.1:p.Gln229His
CA345040546
ENST00000676888.1:c.687G>C
CA345040547
ENST00000676888.1:c.687G>T