HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000382071.1:p.[Ala499_Glu504delinsArgGlyProAlaAspArg;Lys506_Arg508delinsGlnArgThr;Gly510_Ser515delinsArgGluCysValAlaGlu;Val517Cys;Gly518_Cys519insMet;Ala520_Leu521delinsSerPheTyr;Thr523_Leu524delinsAlaHis;Ile526_Ile528delinsHis] |
CA3054201768
ENST00000399120.5:c.1494dup
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