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{ "@id": "http://reg.genome.network/allele/PA2827077870", "coordinates": [ { "allele": "T", "end": 395, "referenceAllele": "C", "start": 394 } ], "gene": "http://reg.genome.network/gene/GN004431", "geneNCBI_id": 9570, "geneSymbol": "GOSR2", "hgvs": [ "NM_001321133.1:c.319C>T" ], "proteinEffect": { "hgvs": "NP_001308062.1:p.Arg107Ter", "hgvsWellDefined": "NP_001308062.1:p.Arg107_Gln257delinsThrPheThrThrAsnAspSerAspThrThrIleProMetAspGluSerLeuGlnPheAsnSerSerLeuGlnLysValHisAsnGlyMetAspAspLeuIleLeuAspGlyHisAsnIleLeuAspGlyLeuArgThrGlnArgLeuThrLeuLysGlyThrGlnLysLysIleLeuAspIleAlaAsnMetLeuGlyLeuSerAsnThrValMetArgLeuIleGluLysArgAlaPheGlnAspLysTyrPheMetIleGluThrArgSerHisHisValAlaGlnAsnGlyProGluLeuLeuSerSerArgAspProProAlaSerAlaSerArgSerAlaGlyIleIleGlyMetSerHisHisProAspLeuGlnIleProPheGluLeuArgLeuGlyPheGluLeuTrpPheTyrGlnLeuLeuAlaValIleSerAspGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS514060" }, { "@id": "http://reg.genome.network/allele/PA2827078162", "coordinates": [ { 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