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
ENSP00000503680.1:p.Ile415_Ter416insCysGlyThrTrpCysAlaThrGlyCysLysLeuGlnGlyIlePheIleGlyCysSerCysIleValLeuHisSerSerAlaIleTyrPhe
CA345045872
ENST00000678320.1:c.1248A>C
CA345045879
ENST00000678320.1:c.1248A>T