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          "endIntronDirection": "-",
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    },
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS327891"
    },
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN017652",
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      "geneSymbol": "PORCN",
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      "referenceSequence": "http://reg.genome.network/refseq/RS328888"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS354127"
    },
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360947"
    },
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      "@id": "http://reg.genome.network/allele/PA2826602143",
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        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
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      "gene": "http://reg.genome.network/gene/GN017652",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021782"
    },
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 464
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS037472"
    },
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        {
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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/RS045227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481711",
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        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 319
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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/RS045228"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916070360",
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        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN017652",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045229"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
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      ],
      "gene": "http://reg.genome.network/gene/GN017652",
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      "geneSymbol": "PORCN",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005272692.1:p.Arg208_Gly569delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_005272636.1:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272693.1:p.Arg208Ter",
        "hgvsWellDefined": "XP_005272693.1:p.Arg208_Gly563delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_005272637.1:c.535C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272694.1:p.Arg179Ter",
        "hgvsWellDefined": "XP_005272694.1:p.Arg179_Gly545delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "referenceAllele": "C",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_006724544.2:c.388C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724607.1:p.Arg130Ter",
        "hgvsWellDefined": "XP_006724607.1:p.Arg130_Gly496delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_006724545.2:c.334C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724608.1:p.Arg112Ter",
        "hgvsWellDefined": "XP_006724608.1:p.Arg112_Gly478delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 603,
          "referenceAllele": "C",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_006724546.2:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724609.1:p.Arg95Ter",
        "hgvsWellDefined": "XP_006724609.1:p.Arg95_Gly461delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "referenceAllele": "C",
          "start": 321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_006724547.1:c.70C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724610.1:p.Arg24Ter",
        "hgvsWellDefined": "XP_006724610.1:p.Arg24_Gly390delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 754,
          "referenceAllele": "C",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_011543948.1:c.70C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542250.1:p.Arg24Ter",
        "hgvsWellDefined": "XP_011542250.1:p.Arg24_Gly379delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 779,
          "referenceAllele": "C",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_024452425.1:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308193.1:p.Arg208Ter",
        "hgvsWellDefined": "XP_024308193.1:p.Arg208_Pro609delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpTrpGlyGlyLeuGlyThrProSerProThrGlyCysCysLeuGluGluLeuGlnGlyGlyGlyArgValLeuProGlyGluGlyThrAlaLysThrGluValTrpArgSerAspGluLeuArgSerGlnMetAspLeuHisIleSerSerAlaProArgAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuValArgValGlnProGlyGlnProCysAlaGlnHisSerLeuSerLysMetPheLeuLeuSerLeuSerCysMetCysLeuArgValProThrPhePhePheTrpCysLeuSerHisProHisAsnLeuSerSerIleArgTrpHisProPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826602143",
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NM_001282167.2:c.70C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269096.1:p.Arg24Ter",
        "hgvsWellDefined": "NP_001269096.1:p.Arg24_Gly379delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016935",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NM_022825.4:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_073736.2:p.Arg95Ter",
        "hgvsWellDefined": "NP_073736.2:p.Arg95_Gly450delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698594"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830481527",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NM_203473.3:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982299.1:p.Arg95Ter",
        "hgvsWellDefined": "NP_982299.1:p.Arg95_Gly456delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916070360",
      "coordinates": [
        {
          "allele": "T",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NM_203475.3:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982301.1:p.Arg95Ter",
        "hgvsWellDefined": "NP_982301.1:p.Arg95_Gly461delinsGlyValPheLeuSerValThrIleLeuIleTyrLeuLeuMetGlyGluMetHisMetValAspThrValThrTrpHisLysMetArgGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701651",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326194.11:c.283C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203475.3:c.283C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322304.6:p.Arg95Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982301.1:p.Arg95Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}