{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115653",
  "communityStandardTitle": [
    "NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17673[alleleid]",
        "alleleId": 17673,
        "preferredName": "NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2634",
        "RCV": [
          "RCV000002752",
          "RCV000681680",
          "RCV001389821",
          "RCV001197494",
          "RCV002496236"
        ],
        "variationId": 2634
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-132423185-C-A",
        "id": "3-132423185-C-A",
        "variant": "3:132423185 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132423185C>A?assembly=hg19",
        "id": "chr3:g.132423185C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132704341C>A?assembly=hg38",
        "id": "chr3:g.132704341C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119456961",
        "rs": 119456961
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132423185-C-A?dataset=gnomad_r2_1",
        "id": "3-132423185-C-A",
        "variant": "3:132423185 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132704341-C-A?dataset=gnomad_r4",
        "id": "3-132704341-C-A",
        "variant": "3:132704341 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 132704341,
          "referenceAllele": "C",
          "start": 132704340
        }
      ],
      "hgvs": [
        "NC_000003.12:g.132704341C>A",
        "CM000665.2:g.132704341C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 132423185,
          "referenceAllele": "C",
          "start": 132423184
        }
      ],
      "hgvs": [
        "NC_000003.11:g.132423185C>A",
        "CM000665.1:g.132423185C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 133905875,
          "referenceAllele": "C",
          "start": 133905874
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      ],
      "hgvs": [
        "NC_000003.10:g.133905875C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
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          "end": 23092,
          "referenceAllele": "G",
          "start": 23091
        }
      ],
      "hgvs": [
        "NG_008130.1:g.23092G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000875"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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        }
      ],
      "hgvs": [
        "NG_008130.2:g.23092G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000684294.1:c.1087G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000508078.1:p.Glu363_Ser538delinsThrLysAspLeuGlySerGluAspSerIleProGluGluAspAspPheGlyAspValLeuTrpAspIleHisAspGluGlnGluGlnMetGluThrPheGlnGlnAlaSerAsnSerAlaHisGluLeuGlyPheGluLysTyrTyrGlnArgLeuAsnAspLeuValAlaAlaProAlaProIleProProLeuLeuValSerGlyGlyProGlySerGlyLysSerLeuLeuLeuSerLysTrpIleGlnLeuGlnGlnLysAsnSerProAsnThrLeuIleLeuSerHisPheValGlyArgProMetSerThrSerSerGluSerSerLeuIleIleLysArgLeuThrLeuLysLeuMetGlnHisSerTrpSerValSerAlaLeuThrLeuAspProAlaLysLeuLeuGluGluPheProArgTrpLeuGluLysLeuSerAlaArgHisGlnGlySerIleIleIleValIleAspSerIleAspGlnValGlnValValAlaTyrThrSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829250"
    },
    {
      "coordinates": [
        {
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          "end": 1435,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000337331.10:c.1381G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000338766.5:p.Glu461_Arg1330delinsThrLysAspLeuGlySerGluAspSerIleProGluGluAspAspPheGlyAspValLeuTrpAspIleHisAspGluGlnGluGlnMetGluThrPheGlnGlnAlaSerAsnSerAlaHisGluLeuGlyPheGluLysTyrTyrGlnArgLeuAsnAspLeuValAlaAlaProAlaProIleProProLeuLeuValSerGlyGlyProGlySerGlyLysSerLeuLeuLeuSerLysTrpIleGlnLeuGlnGlnLysAsnSerProAsnThrLeuIleLeuSerHisPheValGlyArgProMetSerThrSerSerGluSerSerLeuIleIleLysArgLeuThrLeuLysLeuMetGlnHisSerTrpSerValSerAlaLeuThrLeuAspProAlaLysLeuLeuGluGluPheProArgTrpLeuGluLysLeuSerAlaArgHisGlnGlySerIleIleIleValIleAspSerIleAspGlnValGlnGlnValGluLysHisMetLysTrpLeuIleAspProLeuProValAsnValArgValIleValSerValAsnValGluThrCysProProAlaTrpArgLeuTrpProThrLeuHisLeuAspProLeuSerProLysAspAlaLysSerIleIleIleAlaGluCysHisSerValAspIleLysLeuSerLysGluGlnGluLysLysLeuGluArgHisCysArgSerAlaThrThrCysAsnAlaLeuTyrValThrLeuPheGlyLysMetIleAlaArgAlaGlyArgAlaGlyAsnLeuAspLysIleLeuHisGlnCysPheGlnCysGlnAspThrLeuSerLeuTyrArgLeuValLeuHisSerIleArgGluSerMetAlaAsnAspValAspLysGluLeuMetLysGlnIleLeuCysLeuValAsnValSerHisAsnGlyValSerGluSerGluLeuMetGluLeuTyrProGluMetSerTrpThrPheLeuThrSerLeuIleHisSerLeuTyrLysMetCysLeuLeuThrTyrGlyCysGlyLeuLeuArgPheGlnHisLeuGlnAlaTrpGluThrValArgLeuGluTyrLeuGluGlyProThrValThrSerSerTyrArgGlnLysLeuIleAsnTyrPheThrLeuGlnLeuSerGlnAspArgValThrTrpArgSerAlaAspGluLeuProTrpLeuPheGlnGlnGlnGlySerLysGlnLysLeuHisAspCysLeuLeuAsnLeuPheValSerGlnAsnLeuTyrLysArgGlyHisPheAlaGluLeuLeuSerTyrTrpGlnPheValGlyLysAspLysSerAlaMetAlaThrGluTyrPheAspSerLeuLysGlnTyrGluLysAsnCysGluGlyGluAspAsnMetSerCysLeuAlaAspLeuTyrGluThrLeuGlyArgPheLeuLysAspLeuGlyLeuLeuSerGlnAlaIleValProLeuGlnArgSerLeuGluIleArgGluThrAlaLeuAspProAspHisProArgValAlaGlnSerLeuHisGlnLeuAlaSerValTyrValGlnTrpLysLysPheGlyAsnAlaGluGlnLeuTyrLysGlnAlaLeuGluIleSerGluAsnAlaTyrGlyAlaAspHisProTyrThrAlaArgGluLeuGluAlaLeuAlaThrLeuTyrGlnLysGlnAsnLysTyrGluGlnAlaGluHisPheArgLysLysSerPheLysIleHisGlnLysAlaIleLysLysLysGlyAsnLeuTyrGlyPheAlaLeuLeuArgArgArgAlaLeuGlnLeuGluGluLeuThrLeuGlyLysAspThrProAspAsnAlaArgThrLeuAsnGluLeuGlyValLeuTyrTyrLeuGlnAsnAsnLeuGluThrAlaAspGlnPheLeuLysArgSerLeuGluMetArgGluArgValLeuGlyProAspHisProAspCysAlaGlnSerLeuAsnAsnLeuAlaAlaLeuCysAsnGluLysLysGlnTyrAspLysAlaGluGluLeuTyrGluArgAlaLeuAspIleArgArgArgAlaLeuAlaProAspHisProSerLeuAlaTyrThrValLysHisLeuAlaIleLeuTyrLysLysMetGlyLysLeuAspLysAlaValProLeuTyrGluLeuAlaValGluIleArgGlnLysSerPheGlyProLysHisProSerValAlaThrAlaLeuValAsnLeuAlaValLeuTyrSerGlnMetLysLysHisValGluAlaLeuProLeuTyrGluArgAlaLeuLysIleTyrGluAspSerLeuGlyArgMetHisProArgValGlyGluThrLeuLysAsnLeuAlaValLeuSerTyrGluGlyGlyAspPheGluLysAlaAlaGluLeuTyrLysArgAlaMetGluIleLysGluAlaGluThrSerLeuLeuGlyGlyLysAlaProSerArgHisSerSerSerGlyAspThrPheSerLeuLysThrAlaHisSerProAsnValPheLeuGlnGlnGlyGlnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747646",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337331.10:c.1381G>T"
          },
          "RefSeq": {
            "hgvs": "NM_153240.5:c.1381G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338766.5:p.Glu461Ter"
          },
          "RefSeq": {
            "hgvs": "NP_694972.3:p.Glu461Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1468,
          "referenceAllele": "G",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000337331.9:c.1381G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000338766.5:p.Glu461_Arg1330delinsThrLysAspLeuGlySerGluAspSerIleProGluGluAspAspPheGlyAspValLeuTrpAspIleHisAspGluGlnGluGlnMetGluThrPheGlnGlnAlaSerAsnSerAlaHisGluLeuGlyPheGluLysTyrTyrGlnArgLeuAsnAspLeuValAlaAlaProAlaProIleProProLeuLeuValSerGlyGlyProGlySerGlyLysSerLeuLeuLeuSerLysTrpIleGlnLeuGlnGlnLysAsnSerProAsnThrLeuIleLeuSerHisPheValGlyArgProMetSerThrSerSerGluSerSerLeuIleIleLysArgLeuThrLeuLysLeuMetGlnHisSerTrpSerValSerAlaLeuThrLeuAspProAlaLysLeuLeuGluGluPheProArgTrpLeuGluLysLeuSerAlaArgHisGlnGlySerIleIleIleValIleAspSerIleAspGlnValGlnGlnValGluLysHisMetLysTrpLeuIleAspProLeuProValAsnValArgValIleValSerValAsnValGluThrCysProProAlaTrpArgLeuTrpProThrLeuHisLeuAspProLeuSerProLysAspAlaLysSerIleIleIleAlaGluCysHisSerValAspIleLysLeuSerLysGluGlnGluLysLysLeuGluArgHisCysArgSerAlaThrThrCysAsnAlaLeuTyrValThrLeuPheGlyLysMetIleAlaArgAlaGlyArgAlaGlyAsnLeuAspLysIleLeuHisGlnCysPheGlnCysGlnAspThrLeuSerLeuTyrArgLeuValLeuHisSerIleArgGluSerMetAlaAsnAspValAspLysGluLeuMetLysGlnIleLeuCysLeuValAsnValSerHisAsnGlyValSerGluSerGluLeuMetGluLeuTyrProGluMetSerTrpThrPheLeuThrSerLeuIleHisSerLeuTyrLysMetCysLeuLeuThrTyrGlyCysGlyLeuLeuArgPheGlnHisLeuGlnAlaTrpGluThrValArgLeuGluTyrLeuGluGlyProThrValThrSerSerTyrArgGlnLysLeuIleAsnTyrPheThrLeuGlnLeuSerGlnAspArgValThrTrpArgSerAlaAspGluLeuProTrpLeuPheGlnGlnGlnGlySerLysGlnLysLeuHisAspCysLeuLeuAsnLeuPheValSerGlnAsnLeuTyrLysArgGlyHisPheAlaGluLeuLeuSerTyrTrpGlnPheValGlyLysAspLysSerAlaMetAlaThrGluTyrPheAspSerLeuLysGlnTyrGluLysAsnCysGluGlyGluAspAsnMetSerCysLeuAlaAspLeuTyrGluThrLeuGlyArgPheLeuLysAspLeuGlyLeuLeuSerGlnAlaIleValProLeuGlnArgSerLeuGluIleArgGluThrAlaLeuAspProAspHisProArgValAlaGlnSerLeuHisGlnLeuAlaSerValTyrValGlnTrpLysLysPheGlyAsnAlaGluGlnLeuTyrLysGlnAlaLeuGluIleSerGluAsnAlaTyrGlyAlaAspHisProTyrThrAlaArgGluLeuGluAlaLeuAlaThrLeuTyrGlnLysGlnAsnLysTyrGluGlnAlaGluHisPheArgLysLysSerPheLysIleHisGlnLysAlaIleLysLysLysGlyAsnLeuTyrGlyPheAlaLeuLeuArgArgArgAlaLeuGlnLeuGluGluLeuThrLeuGlyLysAspThrProAspAsnAlaArgThrLeuAsnGluLeuGlyValLeuTyrTyrLeuGlnAsnAsnLeuGluThrAlaAspGlnPheLeuLysArgSerLeuGluMetArgGluArgValLeuGlyProAspHisProAspCysAlaGlnSerLeuAsnAsnLeuAlaAlaLeuCysAsnGluLysLysGlnTyrAspLysAlaGluGluLeuTyrGluArgAlaLeuAspIleArgArgArgAlaLeuAlaProAspHisProSerLeuAlaTyrThrValLysHisLeuAlaIleLeuTyrLysLysMetGlyLysLeuAspLysAlaValProLeuTyrGluLeuAlaValGluIleArgGlnLysSerPheGlyProLysHisProSerValAlaThrAlaLeuValAsnLeuAlaValLeuTyrSerGlnMetLysLysHisValGluAlaLeuProLeuTyrGluArgAlaLeuLysIleTyrGluAspSerLeuGlyArgMetHisProArgValGlyGluThrLeuLysAsnLeuAlaValLeuSerTyrGluGlyGlyAspPheGluLysAlaAlaGluLeuTyrLysArgAlaMetGluIleLysGluAlaGluThrSerLeuLeuGlyGlyLysAlaProSerArgHisSerSerSerGlyAspThrPheSerLeuLysThrAlaHisSerProAsnValPheLeuGlnGlnGlyGlnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1136,
          "referenceAllele": "G",
          "start": 1135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000419907.1:p.Glu363_Ser538delinsThrLysAspLeuGlySerGluAspSerIleProGluGluAspAspPheGlyAspValLeuTrpAspIleHisAspGluGlnGluGlnMetGluThrPheGlnGlnAlaSerAsnSerAlaHisGluLeuGlyPheGluLysTyrTyrGlnArgLeuAsnAspLeuValAlaAlaProAlaProIleProProLeuLeuValSerGlyGlyProGlySerGlyLysSerLeuLeuLeuSerLysTrpIleGlnLeuGlnGlnLysAsnSerProAsnThrLeuIleLeuSerHisPheValGlyArgProMetSerThrSerSerGluSerSerLeuIleIleLysArgLeuThrLeuLysLeuMetGlnHisSerTrpSerValSerAlaLeuThrLeuAspProAlaLysLeuLeuGluGluPheProArgTrpLeuGluLysLeuSerAlaArgHisGlnGlySerIleIleIleValIleAspSerIleAspGlnValGlnValValAlaTyrThrSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000418664.1:n.1196G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS311967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "ENST00000471702.2:c.1381G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419763.1:p.Glu461Ter",
        "hgvsWellDefined": "ENSP00000419763.1:p.Glu461_Ser636delinsThrLysAspLeuGlySerGluAspSerIleProGluGluAspAspPheGlyAspValLeuTrpAspIleHisAspGluGlnGluGlnMetGluThrPheGlnGlnAlaSerAsnSerAlaHisGluLeuGlyPheGluLysTyrTyrGlnArgLeuAsnAspLeuValAlaAlaProAlaProIleProProLeuLeuValSerGlyGlyProGlySerGlyLysSerLeuLeuLeuSerLysTrpIleGlnLeuGlnGlnLysAsnSerProAsnThrLeuIleLeuSerHisPheValGlyArgProMetSerThrSerSerGluSerSerLeuIleIleLysArgLeuThrLeuLysLeuMetGlnHisSerTrpSerValSerAlaLeuThrLeuAspProAlaLysLeuLeuGluGluPheProArgTrpLeuGluLysLeuSerAlaArgHisGlnGlySerIleIleIleValIleAspSerIleAspGlnValGlnValValAlaTyrThrSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1157,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
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      "geneSymbol": "NPHP3",
      "hgvs": [
        "ENST00000490993.5:n.1157G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS328697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115654",
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
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      "hgvs": [
        "NM_153240.4:c.1381G>T"
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      "proteinEffect": {
        "hgvs": "NP_694972.3:p.Glu461Ter",
        "hgvsWellDefined": "NP_694972.3:p.Glu461_Arg1330delinsThrLysAspLeuGlySerGluAspSerIleProGluGluAspAspPheGlyAspValLeuTrpAspIleHisAspGluGlnGluGlnMetGluThrPheGlnGlnAlaSerAsnSerAlaHisGluLeuGlyPheGluLysTyrTyrGlnArgLeuAsnAspLeuValAlaAlaProAlaProIleProProLeuLeuValSerGlyGlyProGlySerGlyLysSerLeuLeuLeuSerLysTrpIleGlnLeuGlnGlnLysAsnSerProAsnThrLeuIleLeuSerHisPheValGlyArgProMetSerThrSerSerGluSerSerLeuIleIleLysArgLeuThrLeuLysLeuMetGlnHisSerTrpSerValSerAlaLeuThrLeuAspProAlaLysLeuLeuGluGluPheProArgTrpLeuGluLysLeuSerAlaArgHisGlnGlySerIleIleIleValIleAspSerIleAspGlnValGlnGlnValGluLysHisMetLysTrpLeuIleAspProLeuProValAsnValArgValIleValSerValAsnValGluThrCysProProAlaTrpArgLeuTrpProThrLeuHisLeuAspProLeuSerProLysAspAlaLysSerIleIleIleAlaGluCysHisSerValAspIleLysLeuSerLysGluGlnGluLysLysLeuGluArgHisCysArgSerAlaThrThrCysAsnAlaLeuTyrValThrLeuPheGlyLysMetIleAlaArgAlaGlyArgAlaGlyAsnLeuAspLysIleLeuHisGlnCysPheGlnCysGlnAspThrLeuSerLeuTyrArgLeuValLeuHisSerIleArgGluSerMetAlaAsnAspValAspLysGluLeuMetLysGlnIleLeuCysLeuValAsnValSerHisAsnGlyValSerGluSerGluLeuMetGluLeuTyrProGluMetSerTrpThrPheLeuThrSerLeuIleHisSerLeuTyrLysMetCysLeuLeuThrTyrGlyCysGlyLeuLeuArgPheGlnHisLeuGlnAlaTrpGluThrValArgLeuGluTyrLeuGluGlyProThrValThrSerSerTyrArgGlnLysLeuIleAsnTyrPheThrLeuGlnLeuSerGlnAspArgValThrTrpArgSerAlaAspGluLeuProTrpLeuPheGlnGlnGlnGlySerLysGlnLysLeuHisAspCysLeuLeuAsnLeuPheValSerGlnAsnLeuTyrLysArgGlyHisPheAlaGluLeuLeuSerTyrTrpGlnPheValGlyLysAspLysSerAlaMetAlaThrGluTyrPheAspSerLeuLysGlnTyrGluLysAsnCysGluGlyGluAspAsnMetSerCysLeuAlaAspLeuTyrGluThrLeuGlyArgPheLeuLysAspLeuGlyLeuLeuSerGlnAlaIleValProLeuGlnArgSerLeuGluIleArgGluThrAlaLeuAspProAspHisProArgValAlaGlnSerLeuHisGlnLeuAlaSerValTyrValGlnTrpLysLysPheGlyAsnAlaGluGlnLeuTyrLysGlnAlaLeuGluIleSerGluAsnAlaTyrGlyAlaAspHisProTyrThrAlaArgGluLeuGluAlaLeuAlaThrLeuTyrGlnLysGlnAsnLysTyrGluGlnAlaGluHisPheArgLysLysSerPheLysIleHisGlnLysAlaIleLysLysLysGlyAsnLeuTyrGlyPheAlaLeuLeuArgArgArgAlaLeuGlnLeuGluGluLeuThrLeuGlyLysAspThrProAspAsnAlaArgThrLeuAsnGluLeuGlyValLeuTyrTyrLeuGlnAsnAsnLeuGluThrAlaAspGlnPheLeuLysArgSerLeuGluMetArgGluArgValLeuGlyProAspHisProAspCysAlaGlnSerLeuAsnAsnLeuAlaAlaLeuCysAsnGluLysLysGlnTyrAspLysAlaGluGluLeuTyrGluArgAlaLeuAspIleArgArgArgAlaLeuAlaProAspHisProSerLeuAlaTyrThrValLysHisLeuAlaIleLeuTyrLysLysMetGlyLysLeuAspLysAlaValProLeuTyrGluLeuAlaValGluIleArgGlnLysSerPheGlyProLysHisProSerValAlaThrAlaLeuValAsnLeuAlaValLeuTyrSerGlnMetLysLysHisValGluAlaLeuProLeuTyrGluArgAlaLeuLysIleTyrGluAspSerLeuGlyArgMetHisProArgValGlyGluThrLeuLysAsnLeuAlaValLeuSerTyrGluGlyGlyAspPheGluLysAlaAlaGluLeuTyrLysArgAlaMetGluIleLysGluAlaGluThrSerLeuLeuGlyGlyLysAlaProSerArgHisSerSerSerGlyAspThrPheSerLeuLysThrAlaHisSerProAsnValPheLeuGlnGlnGlyGlnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048351",
      "geneNCBI_id": 100532724,
      "geneSymbol": "NPHP3-ACAD11",
      "hgvs": [
        "NR_037804.1:n.1485G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115654",
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "G",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "NM_153240.5:c.1381G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_694972.3:p.Glu461Ter",
        "hgvsWellDefined": "NP_694972.3:p.Glu461_Arg1330delinsThrLysAspLeuGlySerGluAspSerIleProGluGluAspAspPheGlyAspValLeuTrpAspIleHisAspGluGlnGluGlnMetGluThrPheGlnGlnAlaSerAsnSerAlaHisGluLeuGlyPheGluLysTyrTyrGlnArgLeuAsnAspLeuValAlaAlaProAlaProIleProProLeuLeuValSerGlyGlyProGlySerGlyLysSerLeuLeuLeuSerLysTrpIleGlnLeuGlnGlnLysAsnSerProAsnThrLeuIleLeuSerHisPheValGlyArgProMetSerThrSerSerGluSerSerLeuIleIleLysArgLeuThrLeuLysLeuMetGlnHisSerTrpSerValSerAlaLeuThrLeuAspProAlaLysLeuLeuGluGluPheProArgTrpLeuGluLysLeuSerAlaArgHisGlnGlySerIleIleIleValIleAspSerIleAspGlnValGlnGlnValGluLysHisMetLysTrpLeuIleAspProLeuProValAsnValArgValIleValSerValAsnValGluThrCysProProAlaTrpArgLeuTrpProThrLeuHisLeuAspProLeuSerProLysAspAlaLysSerIleIleIleAlaGluCysHisSerValAspIleLysLeuSerLysGluGlnGluLysLysLeuGluArgHisCysArgSerAlaThrThrCysAsnAlaLeuTyrValThrLeuPheGlyLysMetIleAlaArgAlaGlyArgAlaGlyAsnLeuAspLysIleLeuHisGlnCysPheGlnCysGlnAspThrLeuSerLeuTyrArgLeuValLeuHisSerIleArgGluSerMetAlaAsnAspValAspLysGluLeuMetLysGlnIleLeuCysLeuValAsnValSerHisAsnGlyValSerGluSerGluLeuMetGluLeuTyrProGluMetSerTrpThrPheLeuThrSerLeuIleHisSerLeuTyrLysMetCysLeuLeuThrTyrGlyCysGlyLeuLeuArgPheGlnHisLeuGlnAlaTrpGluThrValArgLeuGluTyrLeuGluGlyProThrValThrSerSerTyrArgGlnLysLeuIleAsnTyrPheThrLeuGlnLeuSerGlnAspArgValThrTrpArgSerAlaAspGluLeuProTrpLeuPheGlnGlnGlnGlySerLysGlnLysLeuHisAspCysLeuLeuAsnLeuPheValSerGlnAsnLeuTyrLysArgGlyHisPheAlaGluLeuLeuSerTyrTrpGlnPheValGlyLysAspLysSerAlaMetAlaThrGluTyrPheAspSerLeuLysGlnTyrGluLysAsnCysGluGlyGluAspAsnMetSerCysLeuAlaAspLeuTyrGluThrLeuGlyArgPheLeuLysAspLeuGlyLeuLeuSerGlnAlaIleValProLeuGlnArgSerLeuGluIleArgGluThrAlaLeuAspProAspHisProArgValAlaGlnSerLeuHisGlnLeuAlaSerValTyrValGlnTrpLysLysPheGlyAsnAlaGluGlnLeuTyrLysGlnAlaLeuGluIleSerGluAsnAlaTyrGlyAlaAspHisProTyrThrAlaArgGluLeuGluAlaLeuAlaThrLeuTyrGlnLysGlnAsnLysTyrGluGlnAlaGluHisPheArgLysLysSerPheLysIleHisGlnLysAlaIleLysLysLysGlyAsnLeuTyrGlyPheAlaLeuLeuArgArgArgAlaLeuGlnLeuGluGluLeuThrLeuGlyLysAspThrProAspAsnAlaArgThrLeuAsnGluLeuGlyValLeuTyrTyrLeuGlnAsnAsnLeuGluThrAlaAspGlnPheLeuLysArgSerLeuGluMetArgGluArgValLeuGlyProAspHisProAspCysAlaGlnSerLeuAsnAsnLeuAlaAlaLeuCysAsnGluLysLysGlnTyrAspLysAlaGluGluLeuTyrGluArgAlaLeuAspIleArgArgArgAlaLeuAlaProAspHisProSerLeuAlaTyrThrValLysHisLeuAlaIleLeuTyrLysLysMetGlyLysLeuAspLysAlaValProLeuTyrGluLeuAlaValGluIleArgGlnLysSerPheGlyProLysHisProSerValAlaThrAlaLeuValAsnLeuAlaValLeuTyrSerGlnMetLysLysHisValGluAlaLeuProLeuTyrGluArgAlaLeuLysIleTyrGluAspSerLeuGlyArgMetHisProArgValGlyGluThrLeuLysAsnLeuAlaValLeuSerTyrGluGlyGlyAspPheGluLysAlaAlaGluLeuTyrLysArgAlaMetGluIleLysGluAlaGluThrSerLeuLeuGlyGlyLysAlaProSerArgHisSerSerSerGlyAspThrPheSerLeuLysThrAlaHisSerProAsnValPheLeuGlnGlnGlyGlnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337331.10:c.1381G>T"
          },
          "RefSeq": {
            "hgvs": "NM_153240.5:c.1381G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338766.5:p.Glu461Ter"
          },
          "RefSeq": {
            "hgvs": "NP_694972.3:p.Glu461Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}