{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3003848",
  "communityStandardTitle": [
    "NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=553502[alleleid]",
        "alleleId": 553502,
        "preferredName": "NM_000297.4(PKD2):c.958C>T (p.Arg320Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/562318",
        "RCV": [
          "RCV000681764",
          "RCV000703336",
          "RCV001292054",
          "RCV001535902",
          "RCV003420205"
        ],
        "variationId": 562318
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-88959517-C-T",
        "id": "4-88959517-C-T",
        "variant": "4:88959517 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88959517C>T?assembly=hg19",
        "id": "chr4:g.88959517C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88038365C>T?assembly=hg38",
        "id": "chr4:g.88038365C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/749004212",
        "rs": 749004212
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88959517-C-T?dataset=gnomad_r2_1",
        "id": "4-88959517-C-T",
        "variant": "4:88959517 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88038365-C-T?dataset=gnomad_r3",
        "id": "4-88038365-C-T",
        "variant": "4:88038365 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88038365-C-T?dataset=gnomad_r4",
        "id": "4-88038365-C-T",
        "variant": "4:88038365 C / T"
      }
    ]
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      "chromosome": "4",
      "coordinates": [
        {
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        "NC_000004.12:g.88038365C>T",
        "CM000666.2:g.88038365C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
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          "start": 88959516
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
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      "referenceGenome": "NCBI36",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS001124"
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      "referenceSequence": "http://reg.genome.network/refseq/RS741004",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000237596.7:c.958C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.958C>T"
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        },
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            "hgvs": "ENSP00000237596.2:p.Arg320Ter"
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            "hgvs": "NP_000288.1:p.Arg320Ter"
          }
        }
      }
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      "coordinates": [
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          "start": 1023
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      ],
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      "geneSymbol": "PKD2",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS249010"
    },
    {
      "coordinates": [
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          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS337923"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN009009",
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      "referenceSequence": "http://reg.genome.network/refseq/RS338205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825501",
      "coordinates": [
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        "hgvsWellDefined": "NP_000288.1:p.Arg320_Val968delinsIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006358"
    },
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      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
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      "geneSymbol": "PKD2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530330.1:p.Arg320_Val893delinsIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "C",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011530331.1:p.Arg80Ter",
        "hgvsWellDefined": "XP_011530331.1:p.Arg80_Val728delinsIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:p.Arg40Ter",
        "hgvsWellDefined": "XP_011530332.1:p.Arg40_Val688delinsIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XR_244632.2:n.1053C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1045,
          "referenceAllele": "C",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.1:n.1045C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.2:c.958C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Arg320Ter",
        "hgvsWellDefined": "XP_011530330.1:p.Arg320_Val893delinsIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532030.2:c.118C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:p.Arg40Ter",
        "hgvsWellDefined": "XP_011530332.1:p.Arg40_Val688delinsIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658825501",
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.4:c.958C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Arg320Ter",
        "hgvsWellDefined": "NP_000288.1:p.Arg320_Val968delinsIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.958C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.958C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Arg320Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Arg320Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1057,
          "referenceAllele": "C",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.2:n.1057C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704972"
    }
  ],
  "type": "nucleotide"
}