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}, { "coordinates": [ { "allele": "G", "end": 3884, "endIntronDirection": "+", "endIntronOffset": 9085, "referenceAllele": "T", "start": 3884, "startIntronDirection": "+", "startIntronOffset": 9084 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004023.3:c.2843+9085T>G" ], "proteinEffect": { "hgvs": "NP_004014.2:n.2843+9085T>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS696023" }, { "@id": "http://reg.genome.network/allele/PA2829504780", "coordinates": [ { "allele": "G", "end": 4073, "referenceAllele": "T", "start": 4072 } ], "gene": "http://reg.genome.network/gene/GN002928", "geneNCBI_id": 1756, "geneSymbol": "DMD", "hgvs": [ "NM_004013.3:c.3032T>G" ], "proteinEffect": { "hgvs": "NP_004004.2:p.Leu1011Ter", "hgvsWellDefined": 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"NP_004013.2:p.Leu998_Glu1230delinsIleGlnHisTyrCysGlnSerLeuAsnGlnAspSerProLeuSerGlnProArgSerProAlaGlnIleLeuIleSerLeuGluSerGluGluArgGlyGluLeuGluArgIleLeuAlaAspLeuGluGluGluAsnArgAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS727465" } ], "type": "nucleotide" }