{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16043404",
  "communityStandardTitle": [
    "NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360861[alleleid]",
        "alleleId": 360861,
        "preferredName": "NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374110",
        "RCV": [
          "RCV000415381"
        ],
        "variationId": 374110
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88929030C>T?assembly=hg19",
        "id": "chr4:g.88929030C>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88007878C>T?assembly=hg38",
        "id": "chr4:g.88007878C>T"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518906",
        "rs": 1057518906
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    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88007878-C-T?dataset=gnomad_r3",
        "id": "4-88007878-C-T",
        "variant": "4:88007878 C / T"
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    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88007878-C-T?dataset=gnomad_r4",
        "id": "4-88007878-C-T",
        "variant": "4:88007878 C / T"
      }
    ]
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    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 88007878,
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          "start": 88007877
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      ],
      "hgvs": [
        "NC_000004.12:g.88007878C>T",
        "CM000666.2:g.88007878C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
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          "end": 88929030,
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      ],
      "hgvs": [
        "NC_000004.11:g.88929030C>T",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
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          "end": 89148054,
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
          "start": 5210
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      ],
      "hgvs": [
        "NG_008604.1:g.5211C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001124"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
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          "start": 243
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      ],
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      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000237596.2:p.Gln49_Val968delinsArgGlyLeuGluIleGluMetGlnArgIleArgGlnAlaAlaAlaArgAspProProAlaGlyAlaAlaAlaSerProSerProProLeuSerSerCysSerArgGlnAlaTrpSerArgAspAsnProGlyPheGluAlaGluGluGluGluGluGluValGluGlyGluGluGlyGlyMetValValGluMetAspValGluTrpArgProGlySerArgArgSerAlaAlaSerSerAlaValSerSerValGlyAlaArgSerArgGlyLeuGlyGlyTyrHisGlyAlaGlyHisProSerGlyArgArgArgArgArgGluAspGlnGlyProProCysProSerProValGlyGlyGlyAspProLeuHisArgHisLeuProLeuGluGlyGlnProProArgValAlaTrpAlaGluArgLeuValArgGlyLeuArgGlyLeuTrpGlyThrArgLeuMetGluGluSerSerThrAsnArgGluLysTyrLeuLysSerValLeuArgGluLeuValThrTyrLeuLeuPheLeuIleValLeuCysIleLeuThrTyrGlyMetMetSerSerAsnValTyrTyrTyrThrArgMetMetSerGlnLeuPheLeuAspThrProValSerLysThrGluLysThrAsnPheLysThrLeuSerSerMetGluAspPheTrpLysPheThrGluGlySerLeuLeuAspGlyLeuTyrTrpLysMetGlnProSerAsnGlnThrGluAlaAspAsnArgSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741004",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.145C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.145C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Gln49Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Gln49Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "referenceAllele": "C",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000237596.6:c.145C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000237596.2:p.Gln49_Val968delinsArgGlyLeuGluIleGluMetGlnArgIleArgGlnAlaAlaAlaArgAspProProAlaGlyAlaAlaAlaSerProSerProProLeuSerSerCysSerArgGlnAlaTrpSerArgAspAsnProGlyPheGluAlaGluGluGluGluGluGluValGluGlyGluGluGlyGlyMetValValGluMetAspValGluTrpArgProGlySerArgArgSerAlaAlaSerSerAlaValSerSerValGlyAlaArgSerArgGlyLeuGlyGlyTyrHisGlyAlaGlyHisProSerGlyArgArgArgArgArgGluAspGlnGlyProProCysProSerProValGlyGlyGlyAspProLeuHisArgHisLeuProLeuGluGlyGlnProProArgValAlaTrpAlaGluArgLeuValArgGlyLeuArgGlyLeuTrpGlyThrArgLeuMetGluGluSerSerThrAsnArgGluLysTyrLeuLysSerValLeuArgGluLeuValThrTyrLeuLeuPheLeuIleValLeuCysIleLeuThrTyrGlyMetMetSerSerAsnValTyrTyrTyrThrArgMetMetSerGlnLeuPheLeuAspThrProValSerLysThrGluLysThrAsnPheLysThrLeuSerSerMetGluAspPheTrpLysPheThrGluGlySerLeuLeuAspGlyLeuTyrTrpLysMetGlnProSerAsnGlnThrGluAlaAspAsnArgSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS249010"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458918",
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
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        "hgvs": "NP_000288.1:p.Gln49Ter",
        "hgvsWellDefined": "NP_000288.1:p.Gln49_Val968delinsArgGlyLeuGluIleGluMetGlnArgIleArgGlnAlaAlaAlaArgAspProProAlaGlyAlaAlaAlaSerProSerProProLeuSerSerCysSerArgGlnAlaTrpSerArgAspAsnProGlyPheGluAlaGluGluGluGluGluGluValGluGlyGluGluGlyGlyMetValValGluMetAspValGluTrpArgProGlySerArgArgSerAlaAlaSerSerAlaValSerSerValGlyAlaArgSerArgGlyLeuGlyGlyTyrHisGlyAlaGlyHisProSerGlyArgArgArgArgArgGluAspGlnGlyProProCysProSerProValGlyGlyGlyAspProLeuHisArgHisLeuProLeuGluGlyGlnProProArgValAlaTrpAlaGluArgLeuValArgGlyLeuArgGlyLeuTrpGlyThrArgLeuMetGluGluSerSerThrAsnArgGluLysTyrLeuLysSerValLeuArgGluLeuValThrTyrLeuLeuPheLeuIleValLeuCysIleLeuThrTyrGlyMetMetSerSerAsnValTyrTyrTyrThrArgMetMetSerGlnLeuPheLeuAspThrProValSerLysThrGluLysThrAsnPheLysThrLeuSerSerMetGluAspPheTrpLysPheThrGluGlySerLeuLeuAspGlyLeuTyrTrpLysMetGlnProSerAsnGlnThrGluAlaAspAsnArgSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "referenceAllele": "C",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011530330.1:p.Gln49_Val893delinsArgGlyLeuGluIleGluMetGlnArgIleArgGlnAlaAlaAlaArgAspProProAlaGlyAlaAlaAlaSerProSerProProLeuSerSerCysSerArgGlnAlaTrpSerArgAspAsnProGlyPheGluAlaGluGluGluGluGluGluValGluGlyGluGluGlyGlyMetValValGluMetAspValGluTrpArgProGlySerArgArgSerAlaAlaSerSerAlaValSerSerValGlyAlaArgSerArgGlyLeuGlyGlyTyrHisGlyAlaGlyHisProSerGlyArgArgArgArgArgGluAspGlnGlyProProCysProSerProValGlyGlyGlyAspProLeuHisArgHisLeuProLeuGluGlyGlnProProArgValAlaTrpAlaGluArgLeuValArgGlyLeuArgGlyLeuTrpGlyThrArgLeuMetGluGluSerSerThrAsnArgGluLysTyrLeuLysSerValLeuArgGluLeuValThrTyrLeuLeuPheLeuIleValLeuCysIleLeuThrTyrGlyMetMetSerSerAsnValTyrTyrTyrThrArgMetMetSerGlnLeuPheLeuAspThrProValSerLysThrGluLysThrAsnPheLysThrLeuSerSerMetGluAspPheTrpLysPheThrGluGlySerLeuLeuAspGlyLeuTyrTrpLysMetGlnProSerAsnGlnThrGluAlaAspAsnArgSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XR_244632.2:n.240C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.1:n.232C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
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      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Gln49Ter",
        "hgvsWellDefined": "XP_011530330.1:p.Gln49_Val893delinsArgGlyLeuGluIleGluMetGlnArgIleArgGlnAlaAlaAlaArgAspProProAlaGlyAlaAlaAlaSerProSerProProLeuSerSerCysSerArgGlnAlaTrpSerArgAspAsnProGlyPheGluAlaGluGluGluGluGluGluValGluGlyGluGluGlyGlyMetValValGluMetAspValGluTrpArgProGlySerArgArgSerAlaAlaSerSerAlaValSerSerValGlyAlaArgSerArgGlyLeuGlyGlyTyrHisGlyAlaGlyHisProSerGlyArgArgArgArgArgGluAspGlnGlyProProCysProSerProValGlyGlyGlyAspProLeuHisArgHisLeuProLeuGluGlyGlnProProArgValAlaTrpAlaGluArgLeuValArgGlyLeuArgGlyLeuTrpGlyThrArgLeuMetGluGluSerSerThrAsnArgGluLysTyrLeuLysSerValLeuArgGluLeuValThrTyrLeuLeuPheLeuIleValLeuCysIleLeuThrTyrGlyMetMetSerSerAsnValTyrTyrTyrThrArgMetMetSerGlnLeuPheLeuAspThrProValSerLysThrGluLysThrAsnPheLysThrLeuSerSerMetGluAspPheTrpLysPheThrGluGlySerLeuLeuAspGlyLeuTyrTrpLysMetGlnProSerAsnGlnThrGluAlaAspAsnArgSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458918",
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.4:c.145C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Gln49Ter",
        "hgvsWellDefined": "NP_000288.1:p.Gln49_Val968delinsArgGlyLeuGluIleGluMetGlnArgIleArgGlnAlaAlaAlaArgAspProProAlaGlyAlaAlaAlaSerProSerProProLeuSerSerCysSerArgGlnAlaTrpSerArgAspAsnProGlyPheGluAlaGluGluGluGluGluGluValGluGlyGluGluGlyGlyMetValValGluMetAspValGluTrpArgProGlySerArgArgSerAlaAlaSerSerAlaValSerSerValGlyAlaArgSerArgGlyLeuGlyGlyTyrHisGlyAlaGlyHisProSerGlyArgArgArgArgArgGluAspGlnGlyProProCysProSerProValGlyGlyGlyAspProLeuHisArgHisLeuProLeuGluGlyGlnProProArgValAlaTrpAlaGluArgLeuValArgGlyLeuArgGlyLeuTrpGlyThrArgLeuMetGluGluSerSerThrAsnArgGluLysTyrLeuLysSerValLeuArgGluLeuValThrTyrLeuLeuPheLeuIleValLeuCysIleLeuThrTyrGlyMetMetSerSerAsnValTyrTyrTyrThrArgMetMetSerGlnLeuPheLeuAspThrProValSerLysThrGluLysThrAsnPheLysThrLeuSerSerMetGluAspPheTrpLysPheThrGluGlySerLeuLeuAspGlyLeuTyrTrpLysMetGlnProSerAsnGlnThrGluAlaAspAsnArgSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.145C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.145C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Gln49Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Gln49Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.2:n.244C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704972"
    }
  ],
  "type": "nucleotide"
}