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      "referenceSequence": "http://reg.genome.network/refseq/RS104440"
    },
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        "hgvsWellDefined": "XP_011535779.1:p.Arg213_Pro467delinsIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104441"
    },
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          "start": 495
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        "hgvsWellDefined": "XP_006720026.2:p.Arg158_Pro412delinsIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539990"
    },
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      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 744
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      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "XM_011537474.2:c.721C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011535776.2:p.Arg241_Pro495delinsIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 558
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      ],
      "gene": "http://reg.genome.network/gene/GN003544",
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      "hgvs": [
        "XM_011537475.2:c.535C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011535777.2:p.Arg179_Pro433delinsIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552908"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1102
        }
      ],
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        "hgvsWellDefined": "XP_011535778.1:p.Arg110_Pro364delinsIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS552909"
    },
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      "@id": "http://reg.genome.network/allele/PA2829904334",
      "coordinates": [
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          "allele": "T",
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          "start": 618
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      "gene": "http://reg.genome.network/gene/GN003544",
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      "referenceSequence": "http://reg.genome.network/refseq/RS698157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000346342.8:c.568C>T"
          },
          "RefSeq": {
            "hgvs": "NM_019616.4:c.568C>T"
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        "protein": {
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        }
      }
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN003544",
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      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702601"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826500663",
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003544",
      "geneNCBI_id": 2155,
      "geneSymbol": "F7",
      "hgvs": [
        "NM_001267554.2:c.382C>T"
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      "proteinEffect": {
        "hgvs": "NP_001254483.1:p.Arg128Ter",
        "hgvsWellDefined": "NP_001254483.1:p.Arg128_Pro382delinsIleValGlyGlyLysValCysProLysGlyGluCysProTrpGlnValLeuLeuLeuValAsnGlyAlaGlnLeuCysGlyGlyThrLeuIleAsnThrIleTrpValValSerAlaAlaHisCysPheAspLysIleLysAsnTrpArgAsnLeuIleAlaValLeuGlyGluHisAspLeuSerGluHisAspGlyAspGluGlnSerArgArgValAlaGlnValIleIleProSerThrTyrValProGlyThrThrAsnHisAspIleAlaLeuLeuArgLeuHisGlnProValValLeuThrAspHisValValProLeuCysLeuProGluArgThrPheSerGluArgThrLeuAlaPheValArgPheSerLeuValSerGlyTrpGlyGlnLeuLeuAspArgGlyAlaThrAlaLeuGluLeuMetValLeuAsnValProArgLeuMetThrGlnAspCysLeuGlnGlnSerArgLysValGlyAspSerProAsnIleThrGluTyrMetPheCysAlaGlyTyrSerAspGlySerLysAspSerCysLysGlyAspSerGlyGlyProHisAlaThrHisTyrArgGlyThrTrpTyrLeuThrGlyIleValSerTrpGlyGlnGlyCysAlaThrValGlyHisPheGlyValTyrThrArgValSerGlnTyrIleGluTrpLeuGlnLysLeuMetArgSerGluProArgProGlyValLeuLeuArgAlaProPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715076"
    }
  ],
  "type": "nucleotide"
}