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"NP_004004.2:p.Trp956_Met1225delinsProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727462" }, { "@id": "http://reg.genome.network/allele/PA2829505606", "coordinates": [ { "allele": "A", "end": 2119, "referenceAllele": "G", "start": 2118 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004014.3:c.2060G>A" ], "proteinEffect": { "hgvs": "NP_004005.2:p.Trp687Ter", "hgvsWellDefined": "NP_004005.2:p.Trp687_Met956delinsProValAspSerAlaProAlaSerSerProGlnLeuSerHisAspAspThrHisSerArgIleGluHisTyrAlaSerArgLeuAlaGluMetGluAsnSerAsnGlySerTyrLeuAsnAspSerIleSerProAsnGluSerIleAspAspGluHisLeuLeuIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727463" }, { "coordinates": [ { "allele": "A", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 722, "referenceAllele": "G", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 721 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004020.4:c.2843+722G>A" ], "proteinEffect": { "hgvs": "NP_004011.3:n.2843+722G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS727464" }, { "coordinates": [ { "allele": "A", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 722, "referenceAllele": "G", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 721 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004022.3:c.2843+722G>A" ], "proteinEffect": { "hgvs": "NP_004013.2:n.2843+722G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }