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"referenceAllele": "C", "start": 2715 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NR_134606.1:n.2716C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS527710" }, { "@id": "http://reg.genome.network/allele/PA201169", "coordinates": [ { "allele": "T", "end": 2707, "referenceAllele": "C", "start": 2706 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NM_014425.5:c.2509C>T" ], "proteinEffect": { "hgvs": "NP_055240.2:p.Gln837Ter", "hgvsWellDefined": "NP_055240.2:p.Gln837_Pro1065delinsAlaLysLeuThrGlyGlyLeuTyrSerHisLeuProGlnSerThrGluGluLeuArgSerGlyAlaArgArgLeuGluThrSerThrLeuSerGluAspPheGlnValSerLysGluThrAspProAlaProGlyProLeuSerGlyGlnSerValAsnIleAspLeuLeuProValGluLeuArgLeuGlnIleIleGlnArgGluArgArgArgLysGluLeuPheArgLysLysAsnLysAlaAlaAlaValIleGlnArgAlaTrpArgSerTyrGlnLeuArgLysHisLeuSerHisLeuArgHisMetLysGlnLeuGlyAlaGlyAspValAspArgTrpArgGlnGluSerThrAlaLeuLeuLeuGlnValTrpArgLysGluLeuGluLeuLysPheProGlnThrThrAlaValSerLysAlaProLysSerProSerLysGlyThrSerGlyThrLysSerThrLysHisSerValLeuLysGlnIleTyrGlyCysSerHisGluGlyLysIleHisHisProThrArgSerValLysAlaSerSerValLeuArgLeuAsnSerValSerAsnLeuGlnCysIleHisLeuLeuGluAsnSerGlyArgSerLysAsnPheSerTyrAsnLeuGlnSerAlaThrGlnProLysAsnLysThrLysProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668337", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262457.7:c.2509C>T" }, "RefSeq": { "hgvs": "NM_014425.5:c.2509C>T" } }, "protein": { "Ensembl": { 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2658, "referenceAllele": "C", "start": 2657 } ], "gene": "http://reg.genome.network/gene/GN017870", "geneNCBI_id": 27130, "geneSymbol": "INVS", "hgvs": [ "NR_134606.2:n.2658C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS730878" } ], "type": "nucleotide" }