{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2091566207",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.2906G= (p.Arg969=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121907996",
        "rs": 121907996
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51946438,
          "referenceAllele": "C",
          "start": 51946437
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51946438C=",
        "CM000675.2:g.51946438C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 52520574,
          "referenceAllele": "C",
          "start": 52520573
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52520574C=",
        "CM000675.1:g.52520574C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51418575,
          "referenceAllele": "C",
          "start": 51418574
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51418575C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 70057,
          "referenceAllele": "G",
          "start": 70056
        }
      ],
      "hgvs": [
        "NG_008806.1:g.70057G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2844,
          "referenceAllele": "G",
          "start": 2843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*739G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*739G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3443,
          "referenceAllele": "G",
          "start": 3442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1650G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1650G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2398,
          "referenceAllele": "G",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2285G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Arg762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3019,
          "referenceAllele": "G",
          "start": 3018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.2906G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Arg969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2906G="
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2906G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Arg969="
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Arg969="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2285G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Arg762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2573,
          "referenceAllele": "G",
          "start": 2572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2573G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Arg858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2907,
          "referenceAllele": "G",
          "start": 2906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2654G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Arg885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2746,
          "referenceAllele": "G",
          "start": 2745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2672G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Arg891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1053,
          "referenceAllele": "G",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.1053G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3269,
          "referenceAllele": "G",
          "start": 3268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674126.1:n.3269G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1841G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Arg614="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3063,
          "referenceAllele": "G",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.2906G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Arg969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2287,
          "referenceAllele": "G",
          "start": 2286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2285G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Arg762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2573G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Arg858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1690,
          "referenceAllele": "G",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1616G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Arg539="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2939,
          "endIntronDirection": "-",
          "endIntronOffset": 2146,
          "referenceAllele": "G",
          "start": 2939,
          "startIntronDirection": "-",
          "startIntronOffset": 2147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2866-2147G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:n.2866-2147G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2829,
          "referenceAllele": "G",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2672G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Arg891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 126,
          "referenceAllele": "G",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000466629.1:n.126G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 867,
          "referenceAllele": "G",
          "start": 866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.867G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2764,
          "referenceAllele": "G",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*7G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*7G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3650,
          "referenceAllele": "G",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3650G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2251,
          "referenceAllele": "G",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2251G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2836,
          "referenceAllele": "G",
          "start": 2835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2762G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Arg921="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 252,
          "referenceAllele": "G",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.252G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038581",
      "coordinates": [
        {
          "allele": "G",
          "end": 3063,
          "referenceAllele": "G",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.2906G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Arg969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279737",
      "coordinates": [
        {
          "allele": "G",
          "end": 2442,
          "referenceAllele": "G",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2285G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Arg762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318022",
      "coordinates": [
        {
          "allele": "G",
          "end": 2730,
          "referenceAllele": "G",
          "start": 2729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2573G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Arg858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2968,
          "referenceAllele": "G",
          "start": 2967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2810G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3060,
          "referenceAllele": "G",
          "start": 3059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2810G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2891,
          "referenceAllele": "G",
          "start": 2890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2672G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Arg891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2873,
          "referenceAllele": "G",
          "start": 2872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2654G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Arg885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3040,
          "referenceAllele": "G",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.2906G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Arg969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.2870G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Arg957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2639,
          "referenceAllele": "G",
          "start": 2638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.2420G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Arg807="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2900,
          "referenceAllele": "G",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2810G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 858,
          "referenceAllele": "G",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.722G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Arg241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 858,
          "referenceAllele": "G",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.722G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Arg241="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2912,
          "referenceAllele": "G",
          "start": 2911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2810G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2990,
          "referenceAllele": "G",
          "start": 2989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2771G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Arg924="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.2906G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Arg969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2711,
          "referenceAllele": "G",
          "start": 2710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2492G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Arg831="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2949,
          "endIntronDirection": "+",
          "endIntronOffset": 3569,
          "referenceAllele": "G",
          "start": 2949,
          "startIntronDirection": "+",
          "startIntronOffset": 3568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2730+3569G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:n.2730+3569G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1687,
          "referenceAllele": "G",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1574G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Arg525="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3125G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3125G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3125G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3125,
          "referenceAllele": "G",
          "start": 3124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3125G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326282",
      "coordinates": [
        {
          "allele": "G",
          "end": 2829,
          "referenceAllele": "G",
          "start": 2828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2672G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Arg891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329478",
      "coordinates": [
        {
          "allele": "G",
          "end": 2811,
          "referenceAllele": "G",
          "start": 2810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2654G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Arg885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3589,
          "referenceAllele": "G",
          "start": 3588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2810G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3071,
          "referenceAllele": "G",
          "start": 3070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.2906G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Arg969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5955,
          "referenceAllele": "G",
          "start": 5954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.2870G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Arg957="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3217,
          "referenceAllele": "G",
          "start": 3216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2810G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4152,
          "referenceAllele": "G",
          "start": 4151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2810G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2967,
          "referenceAllele": "G",
          "start": 2966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2810G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Arg937="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038581",
      "coordinates": [
        {
          "allele": "G",
          "end": 3019,
          "referenceAllele": "G",
          "start": 3018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.2906G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Arg969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2906G="
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2906G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Arg969="
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Arg969="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279737",
      "coordinates": [
        {
          "allele": "G",
          "end": 2398,
          "referenceAllele": "G",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2285G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Arg762="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329478",
      "coordinates": [
        {
          "allele": "G",
          "end": 2767,
          "referenceAllele": "G",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2654G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Arg885="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318022",
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2573G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Arg858="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326282",
      "coordinates": [
        {
          "allele": "G",
          "end": 2785,
          "referenceAllele": "G",
          "start": 2784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2672G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Arg891="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}