{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16611587",
  "communityStandardTitle": [
    "NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=394265[alleleid]",
        "alleleId": 394265,
        "preferredName": "NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411870",
        "RCV": [
          "RCV000456934",
          "RCV000517676",
          "RCV001000019",
          "RCV003352876"
        ],
        "variationId": 411870
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88959532C>T?assembly=hg19",
        "id": "chr4:g.88959532C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88038380C>T?assembly=hg38",
        "id": "chr4:g.88038380C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503526",
        "rs": 1060503526
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88959532-C-T?dataset=gnomad_r2_1",
        "id": "4-88959532-C-T",
        "variant": "4:88959532 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88038380-C-T?dataset=gnomad_r3",
        "id": "4-88038380-C-T",
        "variant": "4:88038380 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88038380-C-T?dataset=gnomad_r4",
        "id": "4-88038380-C-T",
        "variant": "4:88038380 C / T"
      }
    ]
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      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
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          "end": 88959532,
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          "start": 88959531
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      "referenceGenome": "GRCh37",
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    {
      "chromosome": "4",
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      "referenceGenome": "NCBI36",
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      "coordinates": [
        {
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      "hgvs": [
        "NG_008604.1:g.35713C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001124"
    }
  ],
  "transcriptAlleles": [
    {
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        {
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      "geneNCBI_id": 5311,
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS741004",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000237596.7:c.973C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.973C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Arg325Ter"
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          "RefSeq": {
            "hgvs": "NP_000288.1:p.Arg325Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000237596.6:c.973C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000237596.2:p.Arg325_Val968delinsValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS249010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000506367.1:n.420C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS337923"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458935",
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Arg325Ter",
        "hgvsWellDefined": "NP_000288.1:p.Arg325_Val968delinsValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1062,
          "referenceAllele": "C",
          "start": 1061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.1:c.973C>T"
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      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Arg325Ter",
        "hgvsWellDefined": "XP_011530330.1:p.Arg325_Val893delinsValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532029.1:c.253C>T"
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      "proteinEffect": {
        "hgvs": "XP_011530331.1:p.Arg85Ter",
        "hgvsWellDefined": "XP_011530331.1:p.Arg85_Val728delinsValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
          "referenceAllele": "C",
          "start": 227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:p.Arg45Ter",
        "hgvsWellDefined": "XP_011530332.1:p.Arg45_Val688delinsValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XR_244632.2:n.1068C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1060,
          "referenceAllele": "C",
          "start": 1059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.1:n.1060C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.2:c.973C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Arg325Ter",
        "hgvsWellDefined": "XP_011530330.1:p.Arg325_Val893delinsValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 391,
          "referenceAllele": "C",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532030.2:c.133C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:p.Arg45Ter",
        "hgvsWellDefined": "XP_011530332.1:p.Arg45_Val688delinsValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458935",
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.4:c.973C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Arg325Ter",
        "hgvsWellDefined": "NP_000288.1:p.Arg325_Val968delinsValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.973C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.973C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Arg325Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Arg325Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1072,
          "referenceAllele": "C",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.2:n.1072C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704972"
    }
  ],
  "type": "nucleotide"
}