{
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  "communityStandardTitle": [
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    },
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    },
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    },
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS000456"
    }
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      "coordinates": [
        {
          "allele": "",
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    },
    {
      "coordinates": [
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      "geneSymbol": "CYP27B1",
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    },
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      "geneNCBI_id": 1594,
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    {
      "coordinates": [
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      "hgvs": [
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    },
    {
      "coordinates": [
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          "allele": "",
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          "referenceAllele": "CCCACCC",
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      "gene": "http://reg.genome.network/gene/GN002606",
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      "geneSymbol": "CYP27B1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS366222"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "CCCACCC",
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      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
        "NM_000785.3:c.1319_1325del"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006814"
    },
    {
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          "referenceAllele": "CCCACCC",
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      "gene": "http://reg.genome.network/gene/GN002606",
      "geneNCBI_id": 1594,
      "geneSymbol": "CYP27B1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000776.1:p.Pro440HisfsTer?",
        "hgvsWellDefined": "NP_000776.1:p.[Pro440del;Pro442_Ser445delinsLeuHis;Pro447del;Gly449_Arg453delinsProLeuAlaLeuAla;Cys455_Leu460delinsAlaAlaValTrpGlyAsp;Glu462_Glu464delinsTrpGlnSer;Gln466_Ala468delinsAsnCysLysTrp;Ala470_Gln471delinsTrpProArg]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662579",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228606.4:p.Pro440HisfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000776.1:p.Pro440HisfsTer?"
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        }
      }
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  ],
  "type": "nucleotide"
}