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
ENSP00000504728.1:p.Met199Ile
CA345040290
ENST00000678233.1:c.597G>A
CA345040291
ENST00000678233.1:c.597G>C
CA345040292
ENST00000678233.1:c.597G>T