{
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  "@id": "http://reg.genome.network/allele/CA350584904",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1725507",
        "RCV": [
          "RCV002309191"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2470226435",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
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        "hgvsWellDefined": "ENSP00000392671.1:p.Leu71Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS282268"
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404945.1:p.Val101="
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      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS309935"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 753,
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      "hgvs": [
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        "hgvsWellDefined": "XP_016858977.1:p.Leu26_Cys391delinsLysProAlaGluAlaAlaLeuTyrThrAspAlaPheAsnGluValIleAspAspPheMetThrArgLeuAspGlnLeuArgAlaGluSerAlaSerGlyAsnGlnValSerAspMetAlaGlnLeuPheTyrTyrPheAlaLeuGluAlaIleCysTyrIleLeuPheGluLysArgIleGlyCysLeuGlnArgSerIleProGluAspThrValThrPheValArgSerIleGlyLeuMetPheGlnAsnSerLeuTyrAlaThrPheLeuProLysTrpThrArgProValLeuProPheTrpLysArgTyrLeuAspGlyTrpAsnAlaIlePheSerPheGlyLysLysLeuIleAspGluLysLeuGluAspMetGluAlaGlnLeuGlnAlaAlaGlyProAspGlyIleGlnValSerGlyTyrLeuHisPheLeuLeuAlaSerGlyGlnLeuSerProArgGluAlaMetGlySerLeuProGluLeuLeuMetAlaGlyValAspThrThrSerAsnThrLeuThrTrpAlaLeuTyrHisLeuSerLysAspProGluIleGlnGluAlaLeuHisGluGluValValGlyValValProAlaGlyGlnValProGlnHisLysAspPheAlaHisMetProLeuLeuLysAlaValLeuLysGluThrLeuArgLeuTyrProValValProThrAsnSerArgIleIleGluLysGluIleGluValAspGlyPheLeuPheProLysAsnThrGlnPheValPheCysHisTyrValValSerArgAspProThrAlaPheSerGluProGluSerPheGlnProHisArgTrpLeuArgAsnSerGlnProAlaThrProArgIleGlnHisProPheGlySerValProPheGlyTyrGlyValArgAlaCysLeuGlyArgArgIleAlaGluLeuGluMetGlnLeuLeuLeuAlaArgLeuIleGlnLysTyrLysValValLeuAlaProGluThrGlyGluLeuLysSerValAlaArgIleValLeuValProAsnLysLysValGlyLeuGlnPheLeuGlnArgGlnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580116881",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
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        "maneStatus": "MANE Select",
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}