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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016857324.1:p.Ile448_Ter449insCysGlyThrTrpCysAlaThrGlyCysLysLeuGlnGlyIlePheIleGlyCysSerCysIleValLeuHisSerSerAlaIleTyrPhe
CA345045872
XM_017001835.1:c.1347A>C
CA345045879
XM_017001835.1:c.1347A>T