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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503659.1:p.[Ile186delinsAsnLeu;Gly189_Tyr201delinsProTrpGlySerAlaGlnAspLeuGlnCysGlyHisGlyLeu;Thr203_Leu204delinsHisPro;Leu206_Val214delinsAlaAspCysLeuGluLeuArgGlySer]
CA2650786242
ENST00000678706.1:c.550_556dup