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      "referenceSequence": "http://reg.genome.network/refseq/RS328888"
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS021782"
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      "referenceSequence": "http://reg.genome.network/refseq/RS037472"
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      "referenceSequence": "http://reg.genome.network/refseq/RS045227"
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      "referenceSequence": "http://reg.genome.network/refseq/RS045228"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 623
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      ],
      "gene": "http://reg.genome.network/gene/GN017652",
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      "hgvs": [
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        {
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        {
          "allele": "T",
          "end": 374,
          "referenceAllele": "C",
          "start": 373
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      "referenceSequence": "http://reg.genome.network/refseq/RS075573"
    },
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        {
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          "referenceAllele": "C",
          "start": 400
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      "proteinEffect": {
        "hgvs": "XP_006724608.1:p.Thr68="
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      "referenceSequence": "http://reg.genome.network/refseq/RS075574"
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      "referenceSequence": "http://reg.genome.network/refseq/RS075575"
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      "referenceSequence": "http://reg.genome.network/refseq/RS075576"
    },
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        {
          "allele": "T",
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          "referenceAllele": "C",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS110861"
    },
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        {
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          "start": 577
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
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      ],
      "gene": "http://reg.genome.network/gene/GN017652",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001269096.1:n.-61C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016918",
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        {
          "allele": "T",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN017652",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS698594"
    },
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN017652",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139758682",
      "coordinates": [
        {
          "allele": "T",
          "end": 231,
          "referenceAllele": "C",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_982301.1:p.Gln28Ter",
        "hgvsWellDefined": "NP_982301.1:p.Gln28_Gly461delinsIleTrpLeuLeuLeuAlaIleCysLeuAlaCysArgLeuLeuTrpArgLeuGlyLeuProSerTyrLeuLysHisAlaSerThrValAlaGlyGlyPhePheSerLeuTyrHisPhePheGlnLeuHisMetValTrpValValLeuLeuSerLeuLeuCysTyrLeuValLeuPheLeuCysArgHisSerSerHisArgGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701651",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326194.11:c.82C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203475.3:c.82C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322304.6:p.Gln28Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982301.1:p.Gln28Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}