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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_036618.2:p.Ile447_Ter448insCysGlyThrTrpCysAlaThrGlyCysLysLeuGlnGlyIlePheIleGlyCysSerCysIleValLeuHisSerSerAlaIleTyrPhe
CA345045872
NM_012486.3:c.1344A>C
CA345045879
NM_012486.3:c.1344A>T