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  "communityStandardTitle": [
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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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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS045229"
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS067317"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 834,
          "referenceAllele": "C",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_005272637.1:c.622C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272694.1:p.Arg208Ter",
        "hgvsWellDefined": "XP_005272694.1:p.Arg208_Gly545delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_006724544.2:c.475C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724607.1:p.Arg159Ter",
        "hgvsWellDefined": "XP_006724607.1:p.Arg159_Gly496delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_006724545.2:c.421C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724608.1:p.Arg141Ter",
        "hgvsWellDefined": "XP_006724608.1:p.Arg141_Gly478delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_006724546.2:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724609.1:p.Arg124Ter",
        "hgvsWellDefined": "XP_006724609.1:p.Arg124_Gly461delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "C",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_006724547.1:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724610.1:p.Arg53Ter",
        "hgvsWellDefined": "XP_006724610.1:p.Arg53_Gly390delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 841,
          "referenceAllele": "C",
          "start": 840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_011543948.1:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542250.1:p.Arg53Ter",
        "hgvsWellDefined": "XP_011542250.1:p.Arg53_Gly379delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110861"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "XM_024452425.1:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308193.1:p.Arg237Ter",
        "hgvsWellDefined": "XP_024308193.1:p.Arg237_Pro609delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpTrpGlyGlyLeuGlyThrProSerProThrGlyCysCysLeuGluGluLeuGlnGlyGlyGlyArgValLeuProGlyGluGlyThrAlaLysThrGluValTrpArgSerAspGluLeuArgSerGlnMetAspLeuHisIleSerSerAlaProArgAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuValArgValGlnProGlyGlnProCysAlaGlnHisSerLeuSerLysMetPheLeuLeuSerLeuSerCysMetCysLeuArgValProThrPhePhePheTrpCysLeuSerHisProHisAsnLeuSerSerIleArgTrpHisProPheProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916012526",
      "coordinates": [
        {
          "allele": "T",
          "end": 664,
          "referenceAllele": "C",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NM_001282167.2:c.157C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269096.1:p.Arg53Ter",
        "hgvsWellDefined": "NP_001269096.1:p.Arg53_Gly379delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681711"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830016943",
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NM_022825.4:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_073736.2:p.Arg124Ter",
        "hgvsWellDefined": "NP_073736.2:p.Arg124_Gly450delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgLysTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698594"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255494",
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NM_203473.3:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982299.1:p.Arg124Ter",
        "hgvsWellDefined": "NP_982299.1:p.Arg124_Gly456delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658812849",
      "coordinates": [
        {
          "allele": "T",
          "end": 519,
          "referenceAllele": "C",
          "start": 518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NM_203475.3:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_982301.1:p.Arg124Ter",
        "hgvsWellDefined": "NP_982301.1:p.Arg124_Gly461delinsGlyAlaGlnMetIleValAlaMetLysAlaValSerLeuGlyPheAspLeuAspArgGlyGluValGlyThrValProSerProValGluPheMetGlyTyrLeuTyrPheValGlyThrIleValPheGlyProTrpIleSerPheHisSerTyrLeuGlnAlaValGlnGlyArgProLeuSerCysArgTrpLeuGlnLysValAlaArgSerLeuAlaLeuAlaLeuLeuCysLeuValLeuSerThrCysValGlyProTyrLeuPheProTyrPheIleProLeuAsnGlyAspArgLeuLeuArgAsnLysLysArgLysAlaArgGlyThrMetValArgTrpLeuArgAlaTyrGluSerAlaValSerPheHisPheSerAsnTyrPheValGlyPheLeuSerGluAlaThrAlaThrLeuAlaGlyAlaGlyPheThrGluGluLysAspHisLeuGluTrpAspLeuThrValSerLysProLeuAsnValGluLeuProArgSerMetValGluValValThrSerTrpAsnLeuProMetSerTyrTrpLeuAsnAsnTyrValPheLysAsnAlaLeuArgLeuGlyThrPheSerAlaValLeuValThrTyrAlaAlaSerAlaLeuLeuHisGlyPheSerPheHisLeuAlaAlaValLeuLeuSerLeuAlaPheIleThrTyrValGluHisValLeuArgLysArgLeuAlaArgIleLeuSerAlaCysValLeuSerLysArgCysProProAspCysSerHisGlnHisArgLeuGlyLeuGlyValArgAlaLeuAsnLeuLeuPheGlyAlaLeuAlaIlePheHisLeuAlaTyrLeuGlySerLeuPheAspValAspValAspAspThrThrGluGluGlnGlyTyrGlyMetAlaTyrThrValHisLysTrpSerGluLeuSerTrpAlaSerHisTrpValThrPheGlyCysTrpIlePheTyrArgLeuIleGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701651",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326194.11:c.370C>T"
          },
          "RefSeq": {
            "hgvs": "NM_203475.3:c.370C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000322304.6:p.Arg124Ter"
          },
          "RefSeq": {
            "hgvs": "NP_982301.1:p.Arg124Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}