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Canonical Allele Identifier: Get Identifier
Gene: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000450845.1:p.Ile374_Ter375insTyrGlyLeuIleAlaLeuHisLeuSerHisGluLeuLeuSerArgAsnPheProAlaValSerSerLeuValLysThrGlnArgLysGlyGlu
CA390305516
ENST00000555386.6:c.1125G>C
CA390305517
ENST00000555386.6:c.1125G>T