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      "referenceSequence": "http://reg.genome.network/refseq/RS082782"
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      "referenceSequence": "http://reg.genome.network/refseq/RS566217"
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN021708",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS606512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828086505",
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
        "NM_001363458.2:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350387.1:p.Gln72Ter",
        "hgvsWellDefined": "NP_001350387.1:p.Gln72_Ala485delinsLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690651"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828086620",
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "C",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
        "NM_001363459.2:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350388.1:p.Gln14Ter",
        "hgvsWellDefined": "NP_001350388.1:p.Gln14_Ala427delinsLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAlaSerHisValThrSerSerThrValThrSerSerPheAspCysGlnLeuProLeuHisPheArgThrLeuAlaIleThrLeuSerProProLysPheSerArgValIleSerLeuPheGlnAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690652"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830059483",
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
        "NM_031443.4:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_113631.1:p.Gln72Ter",
        "hgvsWellDefined": "NP_113631.1:p.Gln72_Ala444delinsLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698949",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258781.11:c.214C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031443.4:c.214C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258781.7:p.Gln72Ter"
          },
          "RefSeq": {
            "hgvs": "NP_113631.1:p.Gln72Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "C",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
        "NR_030770.2:n.296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702076"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826050829",
      "coordinates": [
        {
          "allele": "T",
          "end": 173,
          "referenceAllele": "C",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
        "NM_001167934.2:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161406.1:p.Gln14Ter",
        "hgvsWellDefined": "NP_001161406.1:p.Gln14_Ala386delinsLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAlaGlnAspProGlyIleSerProSerGlnSerLeuCysAlaGluSerSerArgGlyLeuSerAlaGlySerLeuSerGluSerAlaValGlyProValGluAlaCysCysLeuValIleLeuAlaAlaGluSerLysValAlaAlaGluGluLeuCysCysLeuLeuGlyGlnValPheGlnValValTyrThrGluSerThrIleAspPheLeuAspArgAlaIlePheAspGlyAlaSerThrProThrHisHisLeuSerLeuHisSerAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826051003",
      "coordinates": [
        {
          "allele": "T",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021708",
      "geneNCBI_id": 83605,
      "geneSymbol": "CCM2",
      "hgvs": [
        "NM_001167935.2:c.214C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161407.1:p.Gln72Ter",
        "hgvsWellDefined": "NP_001161407.1:p.Gln72_Ala353delinsLeuThrSerIleProGlyTyrLeuAsnProSerSerArgThrGluIleLeuHisPheIleAspAsnAlaLysArgAlaHisGlnLeuProGlyHisLeuThrGlnGluHisAspAlaValLeuSerLeuSerAlaTyrAsnValLysLeuAlaTrpArgAspGlyGluAspIleIleLeuArgValProIleHisAspIleAlaAlaValSerTyrValArgAspAspAlaAlaHisLeuValValLeuLysThrAspAspSerSerThrLysValAspIleLysGluThrTyrGluValGluAlaSerThrPheCysPheProGluSerValAspValGlyGlyAlaSerProHisSerLysThrIleSerGluSerGluLeuSerAlaSerAlaThrGluLeuLeuGlnAspTyrMetLeuThrLeuArgThrLysLeuSerSerGlnGluIleGlnGlnPheAlaAlaLeuLeuHisGluTyrArgAsnGlyAlaSerIleHisGluPheCysIleAsnLeuArgGlnLeuTyrGlyAspSerArgLysPheLeuLeuLeuGlyLeuArgProPheIleProGluLysAspSerGlnHisPheGluAsnPheLeuGluThrIleGlyValLysAspGlyArgGlyIleIleThrAspSerPheGlyArgHisArgArgAlaLeuSerThrThrSerSerSerThrThrAsnGlyAsnArgAlaThrGlySerSerAspAspArgSerAlaProSerGluGlyAspGluTrpAspArgMetIleSerAspIleSerSerAspIleGluAlaLeuGlyCysSerMetAspGlnAspSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713261"
    }
  ],
  "type": "nucleotide"
}