{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388020763",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.4016C>T (p.Ala1339Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3232588[alleleid]",
        "alleleId": 3232588,
        "preferredName": "NM_000053.4(ATP7B):c.4016C>T (p.Ala1339Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3073718",
        "RCV": [
          "RCV004016724"
        ],
        "variationId": 3073718
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52511417G>A?assembly=hg19",
        "id": "chr13:g.52511417G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51937281G>A?assembly=hg38",
        "id": "chr13:g.51937281G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2547563737",
        "rs": 2547563737
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51937281,
          "referenceAllele": "G",
          "start": 51937280
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51937281G>A",
        "CM000675.2:g.51937281G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 52511417,
          "referenceAllele": "G",
          "start": 52511416
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52511417G>A",
        "CM000675.1:g.52511417G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51409418,
          "referenceAllele": "G",
          "start": 51409417
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51409418G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79214,
          "referenceAllele": "C",
          "start": 79213
        }
      ],
      "hgvs": [
        "NG_008806.1:g.79214C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3771,
          "referenceAllele": "C",
          "start": 3770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*1666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*1666C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4553,
          "referenceAllele": "C",
          "start": 4552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*2760C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*2760C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3508,
          "referenceAllele": "C",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.3395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Ala1132Val",
        "hgvsWellDefined": "ENSP00000500964.2:p.Ala1132Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4129,
          "referenceAllele": "C",
          "start": 4128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.4016C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Ala1339Val",
        "hgvsWellDefined": "ENSP00000242839.5:p.Ala1339Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.4016C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.4016C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Ala1339Val"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Ala1339Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "referenceAllele": "C",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.3395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Ala1132Val",
        "hgvsWellDefined": "ENSP00000342559.5:p.Ala1132Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3683,
          "referenceAllele": "C",
          "start": 3682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.3683C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Ala1228Val",
        "hgvsWellDefined": "ENSP00000383217.3:p.Ala1228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4017,
          "referenceAllele": "C",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.3764C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Ala1255Val",
        "hgvsWellDefined": "ENSP00000416738.3:p.Ala1255Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673696.1:n.1339C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3856,
          "referenceAllele": "C",
          "start": 3855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.3782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Ala1261Val",
        "hgvsWellDefined": "ENSP00000501168.1:p.Ala1261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4155,
          "referenceAllele": "C",
          "start": 4154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.4155C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673923.1:n.882C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2951,
          "referenceAllele": "C",
          "start": 2950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.2951C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Ala984Val",
        "hgvsWellDefined": "ENSP00000500964.1:p.Ala984Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4173,
          "referenceAllele": "C",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.4016C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Ala1339Val",
        "hgvsWellDefined": "ENSP00000242839.4:p.Ala1339Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3397,
          "referenceAllele": "C",
          "start": 3396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.3395C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Ala1132Val",
        "hgvsWellDefined": "ENSP00000342559.5:p.Ala1132Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3840,
          "referenceAllele": "C",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.3683C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Ala1228Val",
        "hgvsWellDefined": "ENSP00000383217.3:p.Ala1228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2800,
          "referenceAllele": "C",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.2726C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Ala909Val",
        "hgvsWellDefined": "ENSP00000383221.3:p.Ala909Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3895,
          "referenceAllele": "C",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.3821C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Ala1274Val",
        "hgvsWellDefined": "ENSP00000393343.2:p.Ala1274Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3939,
          "referenceAllele": "C",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.3782C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Ala1261Val",
        "hgvsWellDefined": "ENSP00000416738.2:p.Ala1261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1794,
          "referenceAllele": "C",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1794C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3874,
          "referenceAllele": "C",
          "start": 3873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*1117C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*1117C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4760,
          "referenceAllele": "C",
          "start": 4759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.4760C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3361,
          "referenceAllele": "C",
          "start": 3360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.3361C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3946,
          "referenceAllele": "C",
          "start": 3945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.3872C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Ala1291Val",
        "hgvsWellDefined": "ENSP00000489398.1:p.Ala1291Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038965",
      "coordinates": [
        {
          "allele": "T",
          "end": 4173,
          "referenceAllele": "C",
          "start": 4172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.4016C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Ala1339Val",
        "hgvsWellDefined": "NP_000044.2:p.Ala1339Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280250",
      "coordinates": [
        {
          "allele": "T",
          "end": 3552,
          "referenceAllele": "C",
          "start": 3551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.3395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Ala1132Val",
        "hgvsWellDefined": "NP_001005918.1:p.Ala1132Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318568",
      "coordinates": [
        {
          "allele": "T",
          "end": 3840,
          "referenceAllele": "C",
          "start": 3839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.3683C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Ala1228Val",
        "hgvsWellDefined": "NP_001230111.1:p.Ala1228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4078,
          "referenceAllele": "C",
          "start": 4077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.3920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Ala1307Val",
        "hgvsWellDefined": "XP_005266480.1:p.Ala1307Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4170,
          "referenceAllele": "C",
          "start": 4169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.3920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Ala1307Val",
        "hgvsWellDefined": "XP_005266481.1:p.Ala1307Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4001,
          "referenceAllele": "C",
          "start": 4000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.3782C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Ala1261Val",
        "hgvsWellDefined": "XP_005266484.1:p.Ala1261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3983,
          "referenceAllele": "C",
          "start": 3982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.3764C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Ala1255Val",
        "hgvsWellDefined": "XP_005266485.1:p.Ala1255Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4150,
          "referenceAllele": "C",
          "start": 4149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.4016C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Ala1339Val",
        "hgvsWellDefined": "XP_005266487.1:p.Ala1339Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3995,
          "referenceAllele": "C",
          "start": 3994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.3980C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Ala1327Val",
        "hgvsWellDefined": "XP_005266488.1:p.Ala1327Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3749,
          "referenceAllele": "C",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.3530C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Ala1177Val",
        "hgvsWellDefined": "XP_005266489.1:p.Ala1177Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4010,
          "referenceAllele": "C",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.3920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Ala1307Val",
        "hgvsWellDefined": "XP_006719900.1:p.Ala1307Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1968,
          "referenceAllele": "C",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.1832C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Ala611Val",
        "hgvsWellDefined": "XP_006719901.1:p.Ala611Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.1649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Ala550Val",
        "hgvsWellDefined": "XP_006719902.1:p.Ala550Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4022,
          "referenceAllele": "C",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.3920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Ala1307Val",
        "hgvsWellDefined": "XP_011533419.1:p.Ala1307Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4100,
          "referenceAllele": "C",
          "start": 4099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.3881C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Ala1294Val",
        "hgvsWellDefined": "XP_011533420.1:p.Ala1294Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4052,
          "referenceAllele": "C",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.3833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Ala1278Val",
        "hgvsWellDefined": "XP_011533421.1:p.Ala1278Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3821,
          "referenceAllele": "C",
          "start": 3820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.3602C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Ala1201Val",
        "hgvsWellDefined": "XP_011533422.1:p.Ala1201Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3722,
          "referenceAllele": "C",
          "start": 3721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.3503C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Ala1168Val",
        "hgvsWellDefined": "XP_011533423.1:p.Ala1168Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2797,
          "referenceAllele": "C",
          "start": 2796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.2684C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Ala895Val",
        "hgvsWellDefined": "XP_011533424.1:p.Ala895Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4235,
          "referenceAllele": "C",
          "start": 4234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.4235C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4235,
          "referenceAllele": "C",
          "start": 4234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.4235C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4235,
          "referenceAllele": "C",
          "start": 4234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.4235C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4235,
          "referenceAllele": "C",
          "start": 4234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.4235C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327288",
      "coordinates": [
        {
          "allele": "T",
          "end": 3939,
          "referenceAllele": "C",
          "start": 3938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.3782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Ala1261Val",
        "hgvsWellDefined": "NP_001317507.1:p.Ala1261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330371",
      "coordinates": [
        {
          "allele": "T",
          "end": 3921,
          "referenceAllele": "C",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.3764C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Ala1255Val",
        "hgvsWellDefined": "NP_001317508.1:p.Ala1255Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4699,
          "referenceAllele": "C",
          "start": 4698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.3920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Ala1307Val",
        "hgvsWellDefined": "XP_005266481.1:p.Ala1307Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4181,
          "referenceAllele": "C",
          "start": 4180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.4016C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Ala1339Val",
        "hgvsWellDefined": "XP_005266487.1:p.Ala1339Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7065,
          "referenceAllele": "C",
          "start": 7064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.3980C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Ala1327Val",
        "hgvsWellDefined": "XP_005266488.1:p.Ala1327Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4327,
          "referenceAllele": "C",
          "start": 4326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.3920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Ala1307Val",
        "hgvsWellDefined": "XP_006719900.1:p.Ala1307Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5262,
          "referenceAllele": "C",
          "start": 5261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.3920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Ala1307Val",
        "hgvsWellDefined": "XP_011533419.1:p.Ala1307Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4077,
          "referenceAllele": "C",
          "start": 4076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.3920C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Ala1307Val",
        "hgvsWellDefined": "XP_016876116.1:p.Ala1307Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038965",
      "coordinates": [
        {
          "allele": "T",
          "end": 4129,
          "referenceAllele": "C",
          "start": 4128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.4016C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Ala1339Val",
        "hgvsWellDefined": "NP_000044.2:p.Ala1339Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.4016C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.4016C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Ala1339Val"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Ala1339Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280250",
      "coordinates": [
        {
          "allele": "T",
          "end": 3508,
          "referenceAllele": "C",
          "start": 3507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.3395C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Ala1132Val",
        "hgvsWellDefined": "NP_001005918.1:p.Ala1132Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330371",
      "coordinates": [
        {
          "allele": "T",
          "end": 3877,
          "referenceAllele": "C",
          "start": 3876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3764C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Ala1255Val",
        "hgvsWellDefined": "NP_001317508.1:p.Ala1255Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318568",
      "coordinates": [
        {
          "allele": "T",
          "end": 3796,
          "referenceAllele": "C",
          "start": 3795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3683C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Ala1228Val",
        "hgvsWellDefined": "NP_001230111.1:p.Ala1228Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327288",
      "coordinates": [
        {
          "allele": "T",
          "end": 3895,
          "referenceAllele": "C",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3782C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Ala1261Val",
        "hgvsWellDefined": "NP_001317507.1:p.Ala1261Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}