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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000427912.1:p.[Ile13delinsAsnLeu;Gly16_Tyr28delinsProTrpGlySerAlaGlnAspLeuGlnCysGlyHisGlyLeu;Thr30_Leu31delinsHisPro;Leu33_Val41delinsAlaAspCysLeuGluLeuArgGlySer]
CA2650786242
ENST00000460775.5:c.31_37dup