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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_024757.5:c.3229C>T"
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        "protein": {
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          "RefSeq": {
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        }
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    },
    {
      "@id": "http://reg.genome.network/allele/PA2827818469",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN024650",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001341192.1:p.Gln1070_Leu1291delinsLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690127"
    }
  ],
  "type": "nucleotide"
}