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
ENSP00000504343.1:p.Gln228His
CA345040529
ENST00000678835.1:c.684G>C
CA345040531
ENST00000678835.1:c.684G>T