{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA119383",
  "communityStandardTitle": [
    "NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23246[alleleid]",
        "alleleId": 23246,
        "preferredName": "NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8207",
        "RCV": [
          "RCV000008690"
        ],
        "variationId": 8207
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2159404G>A?assembly=hg19",
        "id": "chr16:g.2159404G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2109403G>A?assembly=hg38",
        "id": "chr16:g.2109403G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199476101",
        "rs": 199476101
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2109403,
          "referenceAllele": "G",
          "start": 2109402
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2109403G>A",
        "CM000678.2:g.2109403G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2159404,
          "referenceAllele": "G",
          "start": 2159403
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2159404G>A",
        "CM000678.1:g.2159404G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2099405,
          "referenceAllele": "G",
          "start": 2099404
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2099405G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31496,
          "referenceAllele": "C",
          "start": 31495
        }
      ],
      "hgvs": [
        "NG_008617.1:g.31496C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5973,
          "referenceAllele": "C",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.9:c.5764C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.Gln1922Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.5764C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.5764C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Gln1922Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Gln1922Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5973,
          "referenceAllele": "C",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.8:c.5764C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.Gln1922Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 310,
          "endIntronDirection": "-",
          "endIntronOffset": 2454,
          "referenceAllele": "C",
          "start": 310,
          "startIntronDirection": "-",
          "startIntronOffset": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000415938.7:n.311-2455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284228"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5973,
          "referenceAllele": "C",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000423118.5:c.5764C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399501.1:p.Gln1922Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "endIntronDirection": "-",
          "endIntronOffset": 52,
          "referenceAllele": "C",
          "start": 430,
          "startIntronDirection": "-",
          "startIntronOffset": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000468674.5:n.431-53C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 233,
          "endIntronDirection": "+",
          "endIntronOffset": 2413,
          "referenceAllele": "C",
          "start": 233,
          "startIntronDirection": "+",
          "startIntronOffset": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000483024.1:c.233+2413C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "endIntronDirection": "-",
          "endIntronOffset": 2454,
          "referenceAllele": "C",
          "start": 790,
          "startIntronDirection": "-",
          "startIntronOffset": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000483731.5:n.791-2455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000487932.5:c.451C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457132.1:p.Gln151Ter",
        "hgvsWellDefined": "ENSP00000457132.1:p.Gln151_Val1122delinsValGlyGlyAlaAsnProGluValLeuProGlyProArgPheSerHisSerPheProArgValGlyAspHisValValSerValArgGlyLysAsnHisValSerTrpAlaGlnAlaGlnValArgIleValValLeuGluAlaValSerGlyLeuGlnValProAsnCysCysGluProGlyIleAlaThrGlyThrGluArgAsnPheThrAlaArgValGlnArgGlySerArgValAlaTyrAlaTrpTyrPheSerLeuGlnLysValGlnGlyAspSerLeuValIleLeuSerGlyArgAspValThrTyrThrProValAlaAlaGlyLeuLeuGluIleGlnValArgAlaPheAsnAlaLeuGlySerGluAsnArgThrLeuValLeuGluValGlnAspAlaValGlnTyrValAlaLeuGlnSerGlyProCysPheThrAsnArgSerAlaGlnPheGluAlaAlaThrSerProSerProArgArgValAlaTyrHisTrpAspPheGlyAspGlySerProGlyGlnAspThrAspGluProArgAlaGluHisSerTyrLeuArgProGlyAspTyrArgValGlnValAsnAlaSerAsnLeuValSerPhePheValAlaGlnAlaThrValThrValGlnValLeuAlaCysArgGluProGluValAspValValLeuProLeuGlnValLeuMetArgArgSerGlnArgAsnTyrLeuGluAlaHisValAspLeuArgAspCysValThrTyrGlnThrGluTyrArgTrpGluValTyrArgThrAlaSerCysGlnArgProGlyArgProAlaArgValAlaLeuProGlyValAspValSerArgProArgLeuValLeuProArgLeuAlaLeuProValGlyHisTyrCysPheValPheValValSerPheGlyAspThrProLeuThrGlnSerIleGlnAlaAsnValThrValAlaProGluArgLeuValProIleIleGluGlyGlySerTyrArgValTrpSerAspThrArgAspLeuValLeuAspGlySerGluSerTyrAspProAsnLeuGluAspGlyAspGlnThrProLeuSerPheHisTrpAlaCysValAlaSerThrGlnArgGluAlaGlyGlyCysAlaLeuAsnPheGlyProArgGlySerSerThrValThrIleProArgGluArgLeuAlaAlaGlyValGluTyrThrPheSerLeuThrValTrpLysAlaGlyArgLysGluGluAlaThrAsnGlnThrValLeuIleArgSerGlyArgValProIleValSerLeuGluCysValSerCysLysAlaGlnAlaValTyrGluValSerArgSerSerTyrValTyrLeuGluGlyArgCysLeuAsnCysSerSerGlySerLysArgGlyArgTrpAlaAlaArgThrPheSerAsnLysThrLeuValLeuAspGluThrThrThrSerThrGlySerAlaGlyMetArgLeuValLeuArgArgGlyValLeuArgAspGlyGluGlyTyrThrPheThrLeuThrValLeuGlyArgSerGlyGluGluGluGlyCysAlaSerIleArgLeuSerProAsnArgProProLeuGlyGlySerCysArgLeuPheProLeuGlyAlaValHisAlaLeuThrThrLysValHisPheGluCysThrGlyTrpHisAspAlaGluAspAlaGlyAlaProLeuValTyrAlaLeuLeuLeuArgArgCysArgGlnGlyHisCysGluGluPheCysValTyrLysGlySerLeuSerSerTyrGlyAlaValLeuProProGlyPheArgProHisPheGluValGlyLeuAlaValValValGlnAspGlnLeuGlyAlaAlaValValAlaLeuAsnArgSerLeuAlaIleThrLeuProGluProAsnGlySerAlaThrGlyLeuThrValTrpLeuHisGlyLeuThrAlaSerValLeuProGlyLeuLeuArgGlnAlaAspProGlnHisValIleGluTyrSerLeuAlaLeuValThrValLeuAsnGluTyrGluArgAlaLeuAspValAlaAlaGluProLysHisGluArgGlnHisArgAlaGlnIleArgLysAsnIleThrGluThrLeuValSerLeuArgValHisThrValAspAspIleGlnGlnIleAlaAlaAlaLeuAlaGlnCysMetGlyProSerArgGluLeuValCysArgSerCysLeuLysGlnThrLeuHisLysLeuGluAlaMetMetLeuIleLeuGlnAlaGluThrThrAlaGlyThrValThrProThrAlaIleGlyAspSerIleLeuAsnIleThrGlyAspLeuIleHisLeuAlaSerSerAspValArgAlaProGlnProSerGluLeuGlyAlaGluSerProSerArgMetValAlaSerGlnAlaTyrAsnLeuThrSerAlaLeuMetArgIleLeuMetArgSerArgValLeuAsnGluGluProLeuThrLeuAlaGlyGluGluIleValAlaGlnGlyLysArgSerAspProArgSerLeuLeuCysTyrGlyGlyAlaProGlyProGlyCysHisPheSerIleProGluAlaPheSerGlyAlaLeuAlaAsnLeuSerAspValValGlnLeuIlePheLeuValAspSerAsnProPheProPheGlyTyrIleSerAsnTyrThrValSerThrLysLeuArgGlnLeuArgGlnLeuArgCysGlyProAlaProGlyLeuArgArgCysCysGlyHisProGlyGlnGlnGlnProCysGlyArgAlaAlaSerAlaAlaGlnLeuTyrAlaAlaGlyArgProLeuProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 472,
          "endIntronDirection": "-",
          "endIntronOffset": 1044,
          "referenceAllele": "C",
          "start": 472,
          "startIntronDirection": "-",
          "startIntronOffset": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000488185.2:c.473-1045C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 773,
          "endIntronDirection": "-",
          "endIntronOffset": 2454,
          "referenceAllele": "C",
          "start": 773,
          "startIntronDirection": "-",
          "startIntronOffset": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000565639.6:n.774-2455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS378880"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2226,
          "endIntronDirection": "-",
          "endIntronOffset": 2454,
          "referenceAllele": "C",
          "start": 2226,
          "startIntronDirection": "-",
          "startIntronOffset": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000568591.5:c.2227-2455C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457162.1:n.2227-2455C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "-",
          "endIntronOffset": 2454,
          "referenceAllele": "C",
          "start": 421,
          "startIntronDirection": "-",
          "startIntronOffset": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000569983.5:n.422-2455C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5973,
          "referenceAllele": "C",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.3:c.5764C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.3:p.Gln1922Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5973,
          "referenceAllele": "C",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.2:c.5764C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.2:p.Gln1922Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2872,
          "referenceAllele": "C",
          "start": 2871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.2:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:p.Gln907Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522525.1:c.5842C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520827.1:p.Gln1948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522526.1:c.5842C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520828.1:p.Gln1948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522527.1:c.5842C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520829.1:p.Gln1948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5833,
          "referenceAllele": "C",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.1:c.5818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.Gln1940Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5833,
          "referenceAllele": "C",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.1:c.5818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Gln1940Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5995,
          "referenceAllele": "C",
          "start": 5994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522530.1:c.5788C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520832.1:p.Gln1930Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5785,
          "referenceAllele": "C",
          "start": 5784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522531.1:c.5770C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520833.1:p.Gln1924Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5923,
          "referenceAllele": "C",
          "start": 5922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522532.1:c.5716C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520834.1:p.Gln1906Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5650,
          "referenceAllele": "C",
          "start": 5649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522533.1:c.5635C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520835.1:p.Gln1879Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5599,
          "referenceAllele": "C",
          "start": 5598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522534.1:c.5578C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520836.1:p.Gln1860Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4013,
          "referenceAllele": "C",
          "start": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522535.1:c.3664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520837.1:p.Gln1222Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522536.1:c.5842C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520838.1:p.Gln1948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2930,
          "referenceAllele": "C",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.1:c.2842C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:p.Gln948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932867.1:n.5857C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932868.1:n.5857C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128745"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932869.1:n.5857C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5857,
          "referenceAllele": "C",
          "start": 5856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932870.1:n.5857C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3560,
          "referenceAllele": "C",
          "start": 3559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.3:c.2719C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:p.Gln907Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5999,
          "referenceAllele": "C",
          "start": 5998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.3:c.5818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.Gln1940Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5999,
          "referenceAllele": "C",
          "start": 5998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.2:c.5818C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Gln1940Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2931,
          "referenceAllele": "C",
          "start": 2930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.2:c.2842C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:p.Gln948Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5899,
          "referenceAllele": "C",
          "start": 5898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450298.1:c.5884C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306066.1:p.Gln1962Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5827,
          "referenceAllele": "C",
          "start": 5826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450299.1:c.5812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306067.1:p.Gln1938Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5885,
          "referenceAllele": "C",
          "start": 5884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450300.1:c.5674C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306068.1:p.Gln1892Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4116,
          "referenceAllele": "C",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450301.1:c.3760C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306069.1:p.Gln1254Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5973,
          "referenceAllele": "C",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.4:c.5764C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.4:p.Gln1922Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5973,
          "referenceAllele": "C",
          "start": 5972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.3:c.5764C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.3:p.Gln1922Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.5764C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.5764C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Gln1922Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Gln1922Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}