{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2091541365",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.2817G= (p.Trp939=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517310",
        "rs": 1057517310
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51949710,
          "referenceAllele": "C",
          "start": 51949709
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51949710C=",
        "CM000675.2:g.51949710C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 52523846,
          "referenceAllele": "C",
          "start": 52523845
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52523846C=",
        "CM000675.1:g.52523846C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51421847,
          "referenceAllele": "C",
          "start": 51421846
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51421847C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66785,
          "referenceAllele": "G",
          "start": 66784
        }
      ],
      "hgvs": [
        "NG_008806.1:g.66785G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2755,
          "referenceAllele": "G",
          "start": 2754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*650G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*650G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3354,
          "referenceAllele": "G",
          "start": 3353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1561G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1561G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2357,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 2357,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2244+297G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:n.2244+297G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "referenceAllele": "G",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.2817G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Trp939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2817G="
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2817G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Trp939="
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Trp939="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2401,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 2401,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2244+297G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:n.2244+297G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2484,
          "referenceAllele": "G",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2484G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Trp828="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2818,
          "referenceAllele": "G",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2565G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Trp855="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2657,
          "referenceAllele": "G",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2583G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Trp861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 1800,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1800+297G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:n.1800+297G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2974,
          "referenceAllele": "G",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.2817G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Trp939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2246,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 2246,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2244+297G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:n.2244+297G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2641,
          "referenceAllele": "G",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2484G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Trp828="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1601,
          "referenceAllele": "G",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1527G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Trp509="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2891,
          "referenceAllele": "G",
          "start": 2890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2817G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Trp939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2740,
          "referenceAllele": "G",
          "start": 2739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2583G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Trp861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "G",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.778G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2655,
          "referenceAllele": "G",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.2583G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:p.Trp861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3609,
          "endIntronDirection": "+",
          "endIntronOffset": 6,
          "referenceAllele": "G",
          "start": 3609,
          "startIntronDirection": "+",
          "startIntronOffset": 5
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3609+6G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2162,
          "referenceAllele": "G",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2162G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2747,
          "referenceAllele": "G",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2673G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Trp891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 3231,
          "referenceAllele": "G",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.212-3232G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080808225",
      "coordinates": [
        {
          "allele": "G",
          "end": 2974,
          "referenceAllele": "G",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.2817G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Trp939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2401,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 2401,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2244+297G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:n.2244+297G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2641,
          "referenceAllele": "G",
          "start": 2640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2484G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Trp828="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2879,
          "referenceAllele": "G",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2721G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Trp907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2971,
          "referenceAllele": "G",
          "start": 2970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2721G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Trp907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2583G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Trp861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2784,
          "referenceAllele": "G",
          "start": 2783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2565G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Trp855="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2951,
          "referenceAllele": "G",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.2817G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Trp939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2796,
          "referenceAllele": "G",
          "start": 2795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.2781G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Trp927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2550,
          "referenceAllele": "G",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.2331G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Trp777="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2811,
          "referenceAllele": "G",
          "start": 2810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2721G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Trp907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.633G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Trp211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.633G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Trp211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2823,
          "referenceAllele": "G",
          "start": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2721G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Trp907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2949,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 2949,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2730+297G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:n.2730+297G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3036,
          "referenceAllele": "G",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.2817G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Trp939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2622,
          "referenceAllele": "G",
          "start": 2621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2403G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Trp801="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2949,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 2949,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2730+297G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:n.2730+297G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1485G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Trp495="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3036,
          "referenceAllele": "G",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3036G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3036,
          "referenceAllele": "G",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3036G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3036,
          "referenceAllele": "G",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3036G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3036,
          "referenceAllele": "G",
          "start": 3035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3036G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2740,
          "referenceAllele": "G",
          "start": 2739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2583G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Trp861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2565G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Trp855="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3500,
          "referenceAllele": "G",
          "start": 3499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2721G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Trp907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2982,
          "referenceAllele": "G",
          "start": 2981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.2817G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Trp939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5866,
          "referenceAllele": "G",
          "start": 5865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.2781G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Trp927="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3128,
          "referenceAllele": "G",
          "start": 3127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2721G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Trp907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4063,
          "referenceAllele": "G",
          "start": 4062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2721G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Trp907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2878,
          "referenceAllele": "G",
          "start": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2721G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Trp907="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3080808225",
      "coordinates": [
        {
          "allele": "G",
          "end": 2930,
          "referenceAllele": "G",
          "start": 2929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.2817G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Trp939="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2817G="
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2817G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Trp939="
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Trp939="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2357,
          "endIntronDirection": "+",
          "endIntronOffset": 297,
          "referenceAllele": "G",
          "start": 2357,
          "startIntronDirection": "+",
          "startIntronOffset": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2244+297G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:n.2244+297G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2678,
          "referenceAllele": "G",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2565G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Trp855="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2597,
          "referenceAllele": "G",
          "start": 2596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2484G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Trp828="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2696,
          "referenceAllele": "G",
          "start": 2695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2583G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Trp861="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}