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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
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      "geneNCBI_id": 4867,
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_005263735.1:p.Arg347_Leu686delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetValIleThrAsnProAsnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005263736.1:p.Arg290_Val676delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_006712551.1:c.1039C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_006712614.1:p.Arg347_Val768delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
          "start": 1081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_006712552.2:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712615.1:p.Arg347Ter",
        "hgvsWellDefined": "XP_006712615.1:p.Arg347_His465delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnIleLysSerGlyMetThrProGluGlyLeuLeuHisTyrThrHisThrLeuSerArgLeuGluTrpHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1082,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011509546.1:p.Arg347_Arg715delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetGlyLeuThrSerSerSerProLysAspProSerThrSerIleProGlyIleAlaGlyAsnLysProThrThrLeuAspProMetGlnAsnThrCysTyrAsnTyrLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845313",
      "coordinates": [
        {
          "allele": "T",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
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      ],
      "gene": "http://reg.genome.network/gene/GN007905",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000263.2:p.Arg347_Val733delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665363",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128178.3:c.871C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121650.1:p.Arg291_Val677delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000445609.7:c.871C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128178.3:c.871C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389879.3:p.Arg291Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001121650.1:p.Arg291Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665765",
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:p.Arg228Ter",
        "hgvsWellDefined": "NP_001121651.1:p.Arg228_Val614delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828479788",
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "referenceAllele": "C",
          "start": 912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001374256.1:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361185.1:p.Arg290Ter",
        "hgvsWellDefined": "NP_001361185.1:p.Arg290_Val676delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828480739",
      "coordinates": [
        {
          "allele": "T",
          "end": 916,
          "referenceAllele": "C",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001374257.1:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361186.1:p.Arg291Ter",
        "hgvsWellDefined": "NP_001361186.1:p.Arg291_Leu630delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysLeuSerLysProValSerProArgGluGlyLysLysLysTrpProGluLeuTyrHisIleLeuLysThrMetHisCysSerCysLeuProCysTyrLysIleMetValIleThrAsnProAsnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830528576",
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "C",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.3:c.1036C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:p.Arg346Ter",
        "hgvsWellDefined": "NP_997064.2:p.Arg346_Val732delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891845313",
      "coordinates": [
        {
          "allele": "T",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.5:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:p.Arg347Ter",
        "hgvsWellDefined": "NP_000263.2:p.Arg347_Val733delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665765",
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.3:c.682C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:p.Arg228Ter",
        "hgvsWellDefined": "NP_001121651.1:p.Arg228_Val614delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830528576",
      "coordinates": [
        {
          "allele": "T",
          "end": 1081,
          "referenceAllele": "C",
          "start": 1080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.4:c.1036C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:p.Arg346Ter",
        "hgvsWellDefined": "NP_997064.2:p.Arg346_Val732delinsAlaAsnTyrPheLeuGlnProGluLeuMetProSerGlnLeuAlaPheArgAspLeuMetTrpAspAlaThrGluGlyThrIleArgSerArgProSerArgIleSerLeuIleLeuThrLeuTrpSerCysLysMetIleProLeuProGlyMetSerIleGlnValLeuSerArgHisValArgLeuCysLeuPheAspGlyAsnLysValLeuSerAsnIleHisThrValArgAlaThrTrpGlnProLysLysProLysThrTrpThrPheSerProGlnValThrArgIleLeuProCysLeuLeuAspGlyAspCysPheIleArgSerAsnSerAlaSerProAspLeuGlyIleLeuPheGluLeuGlyIleSerTyrIleArgAsnSerThrGlyGluArgGlyGluLeuSerCysGlyTrpValPheLeuLysLeuPheAspAlaSerGlyValProIleProAlaLysThrTyrGluLeuPheLeuAsnGlyGlyThrProTyrGluLysGlyIleGluValAspProSerIleSerArgArgAlaHisGlySerValPheTyrGlnIleMetThrMetArgArgGlnProGlnLeuLeuValLysLeuArgSerLeuAsnArgArgSerArgAsnValLeuSerLeuLeuProGluThrLeuIleGlyAsnMetCysSerIleHisLeuLeuIlePheTyrArgGlnIleLeuGlyAspValLeuLeuLysAspArgMetSerLeuGlnSerThrAspLeuIleSerHisProMetLeuAlaThrPheProMetLeuLeuGluGlnProAspValMetAspAlaLeuArgSerSerTrpAlaGlyLysGluSerThrLeuLysArgSerGluLysArgAspLysGluPheLeuLysSerThrPheLeuLeuValTyrHisAspCysValLeuProLeuLeuHisSerThrArgLeuProProPheArgTrpAlaGluGluGluThrGluThrAlaArgTrpLysValIleThrAspPheLeuLysGlnAsnGlnGluAsnGlnGlyAlaLeuGlnAlaLeuLeuSerProAspGlyValHisGluProPheAspLeuSerGluGlnThrTyrAspPheLeuGlyGluMetArgLysAsnAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730119"
    }
  ],
  "type": "nucleotide"
}