{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115660",
  "communityStandardTitle": [
    "NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3122114",
        "active": true,
        "id": "COSM3122114"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17679[alleleid]",
        "alleleId": 17679,
        "preferredName": "NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2640",
        "RCV": [
          "RCV000002759",
          "RCV000234832",
          "RCV001330459",
          "RCV001529627",
          "RCV002281691",
          "RCV002496237"
        ],
        "variationId": 2640
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/3-132415642-G-A",
        "id": "3-132415642-G-A",
        "variant": "3:132415642 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132415642G>A?assembly=hg19",
        "id": "chr3:g.132415642G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.132696798G>A?assembly=hg38",
        "id": "chr3:g.132696798G>A"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606916",
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      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-132415642-G-A?dataset=gnomad_r2_1",
        "id": "3-132415642-G-A",
        "variant": "3:132415642 G / A"
      }
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    "gnomAD_3": [
      {
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    "gnomAD_4": [
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      "chromosome": "3",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "3",
      "coordinates": [
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      "referenceGenome": "NCBI36",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS000875"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS673489"
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      "referenceSequence": "http://reg.genome.network/refseq/RS829250"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS747646",
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        },
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      "coordinates": [
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          "start": 2190
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      "referenceSequence": "http://reg.genome.network/refseq/RS260451"
    },
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      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS313838"
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    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN007907",
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      "referenceSequence": "http://reg.genome.network/refseq/RS328697"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115661",
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        {
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      "gene": "http://reg.genome.network/gene/GN007907",
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      "hgvs": [
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        "hgvsWellDefined": "NP_694972.3:p.Arg702_Arg1330delinsHisCysArgSerAlaThrThrCysAsnAlaLeuTyrValThrLeuPheGlyLysMetIleAlaArgAlaGlyArgAlaGlyAsnLeuAspLysIleLeuHisGlnCysPheGlnCysGlnAspThrLeuSerLeuTyrArgLeuValLeuHisSerIleArgGluSerMetAlaAsnAspValAspLysGluLeuMetLysGlnIleLeuCysLeuValAsnValSerHisAsnGlyValSerGluSerGluLeuMetGluLeuTyrProGluMetSerTrpThrPheLeuThrSerLeuIleHisSerLeuTyrLysMetCysLeuLeuThrTyrGlyCysGlyLeuLeuArgPheGlnHisLeuGlnAlaTrpGluThrValArgLeuGluTyrLeuGluGlyProThrValThrSerSerTyrArgGlnLysLeuIleAsnTyrPheThrLeuGlnLeuSerGlnAspArgValThrTrpArgSerAlaAspGluLeuProTrpLeuPheGlnGlnGlnGlySerLysGlnLysLeuHisAspCysLeuLeuAsnLeuPheValSerGlnAsnLeuTyrLysArgGlyHisPheAlaGluLeuLeuSerTyrTrpGlnPheValGlyLysAspLysSerAlaMetAlaThrGluTyrPheAspSerLeuLysGlnTyrGluLysAsnCysGluGlyGluAspAsnMetSerCysLeuAlaAspLeuTyrGluThrLeuGlyArgPheLeuLysAspLeuGlyLeuLeuSerGlnAlaIleValProLeuGlnArgSerLeuGluIleArgGluThrAlaLeuAspProAspHisProArgValAlaGlnSerLeuHisGlnLeuAlaSerValTyrValGlnTrpLysLysPheGlyAsnAlaGluGlnLeuTyrLysGlnAlaLeuGluIleSerGluAsnAlaTyrGlyAlaAspHisProTyrThrAlaArgGluLeuGluAlaLeuAlaThrLeuTyrGlnLysGlnAsnLysTyrGluGlnAlaGluHisPheArgLysLysSerPheLysIleHisGlnLysAlaIleLysLysLysGlyAsnLeuTyrGlyPheAlaLeuLeuArgArgArgAlaLeuGlnLeuGluGluLeuThrLeuGlyLysAspThrProAspAsnAlaArgThrLeuAsnGluLeuGlyValLeuTyrTyrLeuGlnAsnAsnLeuGluThrAlaAspGlnPheLeuLysArgSerLeuGluMetArgGluArgValLeuGlyProAspHisProAspCysAlaGlnSerLeuAsnAsnLeuAlaAlaLeuCysAsnGluLysLysGlnTyrAspLysAlaGluGluLeuTyrGluArgAlaLeuAspIleArgArgArgAlaLeuAlaProAspHisProSerLeuAlaTyrThrValLysHisLeuAlaIleLeuTyrLysLysMetGlyLysLeuAspLysAlaValProLeuTyrGluLeuAlaValGluIleArgGlnLysSerPheGlyProLysHisProSerValAlaThrAlaLeuValAsnLeuAlaValLeuTyrSerGlnMetLysLysHisValGluAlaLeuProLeuTyrGluArgAlaLeuLysIleTyrGluAspSerLeuGlyArgMetHisProArgValGlyGluThrLeuLysAsnLeuAlaValLeuSerTyrGluGlyGlyAspPheGluLysAlaAlaGluLeuTyrLysArgAlaMetGluIleLysGluAlaGluThrSerLeuLeuGlyGlyLysAlaProSerArgHisSerSerSerGlyAspThrPheSerLeuLysThrAlaHisSerProAsnValPheLeuGlnGlnGlyGlnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "hgvs": [
        "NR_037804.1:n.2110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS050126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115661",
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          "allele": "T",
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      ],
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      "geneSymbol": "NPHP3",
      "hgvs": [
        "NM_153240.5:c.2104C>T"
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      "proteinEffect": {
        "hgvs": "NP_694972.3:p.Arg702Ter",
        "hgvsWellDefined": "NP_694972.3:p.Arg702_Arg1330delinsHisCysArgSerAlaThrThrCysAsnAlaLeuTyrValThrLeuPheGlyLysMetIleAlaArgAlaGlyArgAlaGlyAsnLeuAspLysIleLeuHisGlnCysPheGlnCysGlnAspThrLeuSerLeuTyrArgLeuValLeuHisSerIleArgGluSerMetAlaAsnAspValAspLysGluLeuMetLysGlnIleLeuCysLeuValAsnValSerHisAsnGlyValSerGluSerGluLeuMetGluLeuTyrProGluMetSerTrpThrPheLeuThrSerLeuIleHisSerLeuTyrLysMetCysLeuLeuThrTyrGlyCysGlyLeuLeuArgPheGlnHisLeuGlnAlaTrpGluThrValArgLeuGluTyrLeuGluGlyProThrValThrSerSerTyrArgGlnLysLeuIleAsnTyrPheThrLeuGlnLeuSerGlnAspArgValThrTrpArgSerAlaAspGluLeuProTrpLeuPheGlnGlnGlnGlySerLysGlnLysLeuHisAspCysLeuLeuAsnLeuPheValSerGlnAsnLeuTyrLysArgGlyHisPheAlaGluLeuLeuSerTyrTrpGlnPheValGlyLysAspLysSerAlaMetAlaThrGluTyrPheAspSerLeuLysGlnTyrGluLysAsnCysGluGlyGluAspAsnMetSerCysLeuAlaAspLeuTyrGluThrLeuGlyArgPheLeuLysAspLeuGlyLeuLeuSerGlnAlaIleValProLeuGlnArgSerLeuGluIleArgGluThrAlaLeuAspProAspHisProArgValAlaGlnSerLeuHisGlnLeuAlaSerValTyrValGlnTrpLysLysPheGlyAsnAlaGluGlnLeuTyrLysGlnAlaLeuGluIleSerGluAsnAlaTyrGlyAlaAspHisProTyrThrAlaArgGluLeuGluAlaLeuAlaThrLeuTyrGlnLysGlnAsnLysTyrGluGlnAlaGluHisPheArgLysLysSerPheLysIleHisGlnLysAlaIleLysLysLysGlyAsnLeuTyrGlyPheAlaLeuLeuArgArgArgAlaLeuGlnLeuGluGluLeuThrLeuGlyLysAspThrProAspAsnAlaArgThrLeuAsnGluLeuGlyValLeuTyrTyrLeuGlnAsnAsnLeuGluThrAlaAspGlnPheLeuLysArgSerLeuGluMetArgGluArgValLeuGlyProAspHisProAspCysAlaGlnSerLeuAsnAsnLeuAlaAlaLeuCysAsnGluLysLysGlnTyrAspLysAlaGluGluLeuTyrGluArgAlaLeuAspIleArgArgArgAlaLeuAlaProAspHisProSerLeuAlaTyrThrValLysHisLeuAlaIleLeuTyrLysLysMetGlyLysLeuAspLysAlaValProLeuTyrGluLeuAlaValGluIleArgGlnLysSerPheGlyProLysHisProSerValAlaThrAlaLeuValAsnLeuAlaValLeuTyrSerGlnMetLysLysHisValGluAlaLeuProLeuTyrGluArgAlaLeuLysIleTyrGluAspSerLeuGlyArgMetHisProArgValGlyGluThrLeuLysAsnLeuAlaValLeuSerTyrGluGlyGlyAspPheGluLysAlaAlaGluLeuTyrLysArgAlaMetGluIleLysGluAlaGluThrSerLeuLeuGlyGlyLysAlaProSerArgHisSerSerSerGlyAspThrPheSerLeuLysThrAlaHisSerProAsnValPheLeuGlnGlnGlyGlnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672509",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000337331.10:c.2104C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153240.5:c.2104C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000338766.5:p.Arg702Ter"
          },
          "RefSeq": {
            "hgvs": "NP_694972.3:p.Arg702Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}