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
ENSP00000504727.1:p.Ile448_Ter449insCysGlyThrTrpCysAlaThrGlyCysLysLeuGlnGlyIlePheIleGlyCysSerCysIleValLeuHisSerSerAlaIleTyrPhe
CA345045872
ENST00000679088.1:c.1347A>C
CA345045879
ENST00000679088.1:c.1347A>T