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  "@id": "http://reg.genome.network/allele/CA357513128",
  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983772",
        "RCV": [
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS251762"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS304074"
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    },
    {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS710815"
    },
    {
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      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001300785.2:c.1456C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287714.2:p.Gln486Ter",
        "hgvsWellDefined": "NP_001287714.2:p.Gln486_Phe811delinsGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716879"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745492",
      "coordinates": [
        {
          "allele": "T",
          "end": 1791,
          "referenceAllele": "C",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007467",
      "geneNCBI_id": 4547,
      "geneSymbol": "MTTP",
      "hgvs": [
        "NM_001386140.1:c.1705C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001373069.1:p.Gln569Ter",
        "hgvsWellDefined": "NP_001373069.1:p.Gln569_Phe894delinsGluMetAsnLysTyrMetLeuAlaIleValGlnAspIleLeuArgPheGluMetProAlaSerLysIleValArgArgValLeuLysGluMetValAlaHisAsnTyrAspArgPheSerArgSerGlySerSerSerAlaTyrThrGlyTyrIleGluArgSerProArgSerAlaSerThrTyrSerLeuAspIleLeuTyrSerGlySerGlyIleLeuArgArgSerAsnLeuAsnIlePheGlnTyrIleGlyLysAlaGlyLeuHisGlySerGlnValValIleGluAlaGlnGlyLeuGluAlaLeuIleAlaAlaThrProAspGluGlyGluGluAsnLeuAspSerTyrAlaGlyMetSerAlaIleLeuPheAspValGlnLeuArgProValThrPhePheAsnGlyTyrSerAspLeuMetSerLysMetLeuSerAlaSerGlyAspProIleSerValValLysGlyLeuIleLeuLeuIleAspHisSerGlnGluLeuGlnLeuGlnSerGlyLeuLysAlaAsnIleGluValGlnGlyGlyLeuAlaIleAspIleSerGlyAlaMetGluPheSerLeuTrpTyrArgGluSerLysThrArgValLysAsnArgValThrValValIleThrThrAspIleThrValAspSerSerPheValLysAlaGlyLeuGluThrSerThrGluThrGluAlaGlyLeuGluPheIleSerThrValGlnPheSerGlnTyrProPheLeuValCysMetGlnMetAspLysAspGluAlaProPheArgGlnPheGluLysLysTyrGluArgLeuSerThrGlyArgGlyTyrValSerGlnLysArgLysGluSerValLeuAlaGlyCysGluPheProLeuHisGlnGluAsnSerGluMetCysLysValValPheAlaProGlnProAspSerThrSerSerGlyTrpPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS724418",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265517.10:c.1705C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001386140.1:c.1705C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265517.5:p.Gln569Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001373069.1:p.Gln569Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}