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Canonical Allele Identifier: Get Identifier
Gene: PSEN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005273256.1:p.[Cys400_Ala407delinsSerAspProProAlaAlaCysCys;Phe409_Lys411delinsGlnGluGly;Leu413_Leu416delinsAlaArgPro;Ile418_Thr430delinsHisLeuHisHisValArgAlaHisLeuLeuLeuLeuHis]
CA2650788213
XM_005273199.4:c.1199_1200del