{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA260156",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.*16G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44398[alleleid]",
        "alleleId": 44398,
        "preferredName": "NM_000053.4(ATP7B):c.*16G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/35734",
        "RCV": [
          "RCV000029383",
          "RCV000865113",
          "RCV001420713"
        ],
        "variationId": 35734
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52508876-C-T",
        "id": "13-52508876-C-T",
        "variant": "13:52508876 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52508876C>T?assembly=hg19",
        "id": "chr13:g.52508876C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51934740C>T?assembly=hg38",
        "id": "chr13:g.51934740C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922100",
        "rs": 193922100
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52508876-C-T?dataset=gnomad_r2_1",
        "id": "13-52508876-C-T",
        "variant": "13:52508876 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51934740-C-T?dataset=gnomad_r3",
        "id": "13-51934740-C-T",
        "variant": "13:51934740 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51934740-C-T?dataset=gnomad_r4",
        "id": "13-51934740-C-T",
        "variant": "13:51934740 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51934740,
          "referenceAllele": "C",
          "start": 51934739
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51934740C>T",
        "CM000675.2:g.51934740C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 52508876,
          "referenceAllele": "C",
          "start": 52508875
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52508876C>T",
        "CM000675.1:g.52508876C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51406877,
          "referenceAllele": "C",
          "start": 51406876
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51406877C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81755,
          "referenceAllele": "G",
          "start": 81754
        }
      ],
      "hgvs": [
        "NG_008806.1:g.81755G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*2064G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*2064G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4951,
          "referenceAllele": "G",
          "start": 4950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*3158G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*3158G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3906,
          "referenceAllele": "G",
          "start": 3905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4527,
          "referenceAllele": "G",
          "start": 4526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.*16G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.*16G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:n.*16G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:n.*16G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3950,
          "referenceAllele": "G",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4415,
          "referenceAllele": "G",
          "start": 4414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1737,
          "referenceAllele": "G",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673696.1:n.1737G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4254,
          "referenceAllele": "G",
          "start": 4253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4553,
          "referenceAllele": "G",
          "start": 4552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.4553G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1280,
          "referenceAllele": "G",
          "start": 1279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673923.1:n.1280G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3349,
          "referenceAllele": "G",
          "start": 3348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.3349G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:n.3349G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4571,
          "referenceAllele": "G",
          "start": 4570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3795,
          "referenceAllele": "G",
          "start": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4238,
          "referenceAllele": "G",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3198,
          "referenceAllele": "G",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4293,
          "referenceAllele": "G",
          "start": 4292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4337,
          "referenceAllele": "G",
          "start": 4336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2192,
          "referenceAllele": "G",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.2192G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4272,
          "referenceAllele": "G",
          "start": 4271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*1515G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*1515G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5158,
          "referenceAllele": "G",
          "start": 5157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.5158G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3759,
          "referenceAllele": "G",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.3759G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4344,
          "referenceAllele": "G",
          "start": 4343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4571,
          "referenceAllele": "G",
          "start": 4570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3950,
          "referenceAllele": "G",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4238,
          "referenceAllele": "G",
          "start": 4237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4476,
          "referenceAllele": "G",
          "start": 4475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4568,
          "referenceAllele": "G",
          "start": 4567
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4399,
          "referenceAllele": "G",
          "start": 4398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4381,
          "referenceAllele": "G",
          "start": 4380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4548,
          "referenceAllele": "G",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4393,
          "referenceAllele": "G",
          "start": 4392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4147,
          "referenceAllele": "G",
          "start": 4146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4408,
          "referenceAllele": "G",
          "start": 4407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2366,
          "referenceAllele": "G",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2183,
          "referenceAllele": "G",
          "start": 2182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4420,
          "referenceAllele": "G",
          "start": 4419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4498,
          "referenceAllele": "G",
          "start": 4497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4450,
          "referenceAllele": "G",
          "start": 4449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4120,
          "referenceAllele": "G",
          "start": 4119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3195,
          "referenceAllele": "G",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4633,
          "referenceAllele": "G",
          "start": 4632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.4633G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4633,
          "referenceAllele": "G",
          "start": 4632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.4633G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4633,
          "referenceAllele": "G",
          "start": 4632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.4633G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4633,
          "referenceAllele": "G",
          "start": 4632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.4633G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4337,
          "referenceAllele": "G",
          "start": 4336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4319,
          "referenceAllele": "G",
          "start": 4318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5097,
          "referenceAllele": "G",
          "start": 5096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4579,
          "referenceAllele": "G",
          "start": 4578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7463,
          "referenceAllele": "G",
          "start": 7462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4725,
          "referenceAllele": "G",
          "start": 4724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5660,
          "referenceAllele": "G",
          "start": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4475,
          "referenceAllele": "G",
          "start": 4474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4527,
          "referenceAllele": "G",
          "start": 4526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.*16G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.*16G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:n.*16G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:n.*16G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3906,
          "referenceAllele": "G",
          "start": 3905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4275,
          "referenceAllele": "G",
          "start": 4274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4194,
          "referenceAllele": "G",
          "start": 4193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4293,
          "referenceAllele": "G",
          "start": 4292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.*16G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:n.*16G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}