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
ENSP00000504303.1:p.Val191Leu
CA345040193
ENST00000679098.1:c.571G>C
CA345040195
ENST00000679098.1:c.571G>T