{
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  "@id": "http://reg.genome.network/allele/CA2112653",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790197[alleleid]",
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        "preferredName": "NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801897",
        "RCV": [
          "RCV000987032",
          "RCV003928633"
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        "variationId": 801897
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      }
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        "@id": "http://myvariant.info/v1/variant/chr2:g.219677060C>T?assembly=hg19",
        "id": "chr2:g.219677060C>T"
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        "id": "chr2:g.218812337C>T"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/188850202",
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
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      "coordinates": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "geneSymbol": "CYP27A1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915965231",
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          "allele": "T",
          "end": 598,
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        "hgvsWellDefined": "NP_000775.1:p.Arg188_Cys531delinsLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
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          }
        },
        "protein": {
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          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Arg188Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}