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      "referenceSequence": "http://reg.genome.network/refseq/RS566217"
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      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
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      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016868162.1:p.Gln160_Cys239delinsValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerGlyProTrpProAspProTrpGluAlaAlaGlnAlaAlaLeuGlyGlyGlnLeuAlaValValGluGlnTrpGlnMetGlyLysAsnGlyArgTyrProArgAlaValSerSerCysMetAlaHisThrAlaPheSerGlyValCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566218"
    },
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      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS606512"
    },
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        "hgvsWellDefined": "NP_001350387.1:p.Gln218_Ala485delinsValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828086661",
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      "gene": "http://reg.genome.network/gene/GN021708",
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        "hgvsWellDefined": "NP_001350388.1:p.Gln160_Ala427delinsValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830059596",
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
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      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
        "NM_031443.4:c.652C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_113631.1:p.Gln218_Ala444delinsValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698949",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258781.11:c.652C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031443.4:c.652C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258781.7:p.Gln218Ter"
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          "RefSeq": {
            "hgvs": "NP_113631.1:p.Gln218Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 733
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      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS702076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826050895",
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          "referenceAllele": "C",
          "start": 610
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      ],
      "gene": "http://reg.genome.network/gene/GN021708",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001161406.1:p.Gln160Ter",
        "hgvsWellDefined": "NP_001161406.1:p.Gln160_Ala386delinsValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "endIntronDirection": "-",
          "endIntronOffset": 2857,
          "referenceAllele": "C",
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          "startIntronDirection": "-",
          "startIntronOffset": 2858
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      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001161407.1:n.473-2858C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS713261"
    }
  ],
  "type": "nucleotide"
}