{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394353656",
  "communityStandardTitle": [
    "NM_001009944.3(PKD1):c.9829C>G (p.Arg3277Gly)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2149956G>C?assembly=hg19",
        "id": "chr16:g.2149956G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2099955G>C?assembly=hg38",
        "id": "chr16:g.2099955G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148812376",
        "rs": 148812376
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2099955-G-C?dataset=gnomad_r4",
        "id": "16-2099955-G-C",
        "variant": "16:2099955 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2099955,
          "referenceAllele": "G",
          "start": 2099954
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2099955G>C",
        "CM000678.2:g.2099955G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2149956,
          "referenceAllele": "G",
          "start": 2149955
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2149956G>C",
        "CM000678.1:g.2149956G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2089957,
          "referenceAllele": "G",
          "start": 2089956
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2089957G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43266,
          "referenceAllele": "C",
          "start": 43265
        }
      ],
      "hgvs": [
        "NG_008617.1:g.43266C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10038,
          "referenceAllele": "C",
          "start": 10037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.9:c.9829C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.Arg3277Gly",
        "hgvsWellDefined": "ENSP00000262304.4:p.Arg3277Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.9829C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.9829C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Arg3277Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Arg3277Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10038,
          "referenceAllele": "C",
          "start": 10037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.8:c.9829C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.Arg3277Gly",
        "hgvsWellDefined": "ENSP00000262304.4:p.Arg3277Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2908,
          "referenceAllele": "C",
          "start": 2907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000415938.7:n.2908C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS284228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10038,
          "referenceAllele": "C",
          "start": 10037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000423118.5:c.9829C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399501.1:p.Arg3277Gly",
        "hgvsWellDefined": "ENSP00000399501.1:p.Arg3277Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 638,
          "referenceAllele": "C",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000469851.1:n.638C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312429"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000471603.6:n.1473C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1566,
          "referenceAllele": "C",
          "start": 1565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000480227.5:n.1566C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3715,
          "referenceAllele": "C",
          "start": 3714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000483731.5:n.3715C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3965,
          "referenceAllele": "C",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000486339.6:n.3965C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4391,
          "referenceAllele": "C",
          "start": 4390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000487932.5:c.4391C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457132.1:n.4391C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4065,
          "referenceAllele": "C",
          "start": 4064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000496574.6:n.4065C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333005"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1562,
          "referenceAllele": "C",
          "start": 1561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000562297.5:n.1562C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 319,
          "referenceAllele": "C",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000566905.5:n.319C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1431,
          "referenceAllele": "C",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000567946.1:c.1431C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 273,
          "referenceAllele": "C",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000570193.5:n.273C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381969"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "C",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000570253.5:n.252C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS382009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10038,
          "referenceAllele": "C",
          "start": 10037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.3:c.9829C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.3:p.Arg3277Gly",
        "hgvsWellDefined": "NP_000287.3:p.Arg3277Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10038,
          "referenceAllele": "C",
          "start": 10037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.2:c.9829C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.2:p.Arg3277Gly",
        "hgvsWellDefined": "NP_001009944.2:p.Arg3277Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6937,
          "referenceAllele": "C",
          "start": 6936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.2:c.6784C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:p.Arg2262Gly",
        "hgvsWellDefined": "XP_005255427.1:p.Arg2262Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9922,
          "referenceAllele": "C",
          "start": 9921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522525.1:c.9907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520827.1:p.Arg3303Gly",
        "hgvsWellDefined": "XP_011520827.1:p.Arg3303Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9922,
          "referenceAllele": "C",
          "start": 9921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522526.1:c.9907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520828.1:p.Arg3303Gly",
        "hgvsWellDefined": "XP_011520828.1:p.Arg3303Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9904,
          "referenceAllele": "C",
          "start": 9903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522527.1:c.9889C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520829.1:p.Arg3297Gly",
        "hgvsWellDefined": "XP_011520829.1:p.Arg3297Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9898,
          "referenceAllele": "C",
          "start": 9897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.1:c.9883C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.Arg3295Gly",
        "hgvsWellDefined": "XP_011520830.1:p.Arg3295Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9898,
          "referenceAllele": "C",
          "start": 9897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.1:c.9883C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Arg3295Gly",
        "hgvsWellDefined": "XP_011520831.1:p.Arg3295Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10060,
          "referenceAllele": "C",
          "start": 10059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522530.1:c.9853C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520832.1:p.Arg3285Gly",
        "hgvsWellDefined": "XP_011520832.1:p.Arg3285Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9850,
          "referenceAllele": "C",
          "start": 9849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522531.1:c.9835C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520833.1:p.Arg3279Gly",
        "hgvsWellDefined": "XP_011520833.1:p.Arg3279Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9988,
          "referenceAllele": "C",
          "start": 9987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522532.1:c.9781C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520834.1:p.Arg3261Gly",
        "hgvsWellDefined": "XP_011520834.1:p.Arg3261Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9715,
          "referenceAllele": "C",
          "start": 9714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522533.1:c.9700C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520835.1:p.Arg3234Gly",
        "hgvsWellDefined": "XP_011520835.1:p.Arg3234Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9664,
          "referenceAllele": "C",
          "start": 9663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522534.1:c.9643C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520836.1:p.Arg3215Gly",
        "hgvsWellDefined": "XP_011520836.1:p.Arg3215Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8078,
          "referenceAllele": "C",
          "start": 8077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522535.1:c.7729C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520837.1:p.Arg2577Gly",
        "hgvsWellDefined": "XP_011520837.1:p.Arg2577Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9922,
          "referenceAllele": "C",
          "start": 9921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522536.1:c.9907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520838.1:p.Arg3303Gly",
        "hgvsWellDefined": "XP_011520838.1:p.Arg3303Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6995,
          "referenceAllele": "C",
          "start": 6994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.1:c.6907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:p.Arg2303Gly",
        "hgvsWellDefined": "XP_011520839.1:p.Arg2303Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9922,
          "referenceAllele": "C",
          "start": 9921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932867.1:n.9922C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9922,
          "referenceAllele": "C",
          "start": 9921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932868.1:n.9922C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128745"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9922,
          "referenceAllele": "C",
          "start": 9921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932869.1:n.9922C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9922,
          "referenceAllele": "C",
          "start": 9921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XR_932870.1:n.9922C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7625,
          "referenceAllele": "C",
          "start": 7624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.3:c.6784C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:p.Arg2262Gly",
        "hgvsWellDefined": "XP_005255427.1:p.Arg2262Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10064,
          "referenceAllele": "C",
          "start": 10063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.3:c.9883C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.Arg3295Gly",
        "hgvsWellDefined": "XP_011520830.1:p.Arg3295Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10064,
          "referenceAllele": "C",
          "start": 10063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.2:c.9883C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Arg3295Gly",
        "hgvsWellDefined": "XP_011520831.1:p.Arg3295Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6996,
          "referenceAllele": "C",
          "start": 6995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.2:c.6907C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:p.Arg2303Gly",
        "hgvsWellDefined": "XP_011520839.1:p.Arg2303Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9964,
          "referenceAllele": "C",
          "start": 9963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450298.1:c.9949C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306066.1:p.Arg3317Gly",
        "hgvsWellDefined": "XP_024306066.1:p.Arg3317Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9892,
          "referenceAllele": "C",
          "start": 9891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450299.1:c.9877C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306067.1:p.Arg3293Gly",
        "hgvsWellDefined": "XP_024306067.1:p.Arg3293Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9950,
          "referenceAllele": "C",
          "start": 9949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450300.1:c.9739C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306068.1:p.Arg3247Gly",
        "hgvsWellDefined": "XP_024306068.1:p.Arg3247Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8181,
          "referenceAllele": "C",
          "start": 8180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450301.1:c.7825C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306069.1:p.Arg2609Gly",
        "hgvsWellDefined": "XP_024306069.1:p.Arg2609Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082845087",
      "coordinates": [
        {
          "allele": "G",
          "end": 10038,
          "referenceAllele": "C",
          "start": 10037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.4:c.9829C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.4:p.Arg3277Gly",
        "hgvsWellDefined": "NP_000287.4:p.Arg3277Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 10038,
          "referenceAllele": "C",
          "start": 10037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.3:c.9829C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.3:p.Arg3277Gly",
        "hgvsWellDefined": "NP_001009944.3:p.Arg3277Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.9829C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.9829C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Arg3277Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Arg3277Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}