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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000452242.1:p.Ile378_Ter379insGluGlyLeuIleAlaLeuHisLeuSerHisGluLeuLeuSerArgAsnPheProAlaValSerSerLeuValLysThrGlnArgLysGlyGlu
CA390305515
ENST00000553855.5:c.1135T>G