{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6989027",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5452705",
        "active": true,
        "id": "COSM5452705"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=769597[alleleid]",
        "alleleId": 769597,
        "preferredName": "NM_000053.4(ATP7B):c.2436T>C (p.Asn812=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/758951",
        "RCV": [
          "RCV000936710"
        ],
        "variationId": 758951
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52531663-A-G",
        "id": "13-52531663-A-G",
        "variant": "13:52531663 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52531663A>G?assembly=hg19",
        "id": "chr13:g.52531663A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51957527A>G?assembly=hg38",
        "id": "chr13:g.51957527A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/533967323",
        "rs": 533967323
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52531663-A-G?dataset=gnomad_r2_1",
        "id": "13-52531663-A-G",
        "variant": "13:52531663 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51957527-A-G?dataset=gnomad_r3",
        "id": "13-51957527-A-G",
        "variant": "13:51957527 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51957527-A-G?dataset=gnomad_r4",
        "id": "13-51957527-A-G",
        "variant": "13:51957527 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 51957527,
          "referenceAllele": "A",
          "start": 51957526
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51957527A>G",
        "CM000675.2:g.51957527A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 52531663,
          "referenceAllele": "A",
          "start": 52531662
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52531663A>G",
        "CM000675.1:g.52531663A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 51429664,
          "referenceAllele": "A",
          "start": 51429663
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51429664A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 58968,
          "referenceAllele": "T",
          "start": 58967
        }
      ],
      "hgvs": [
        "NG_008806.1:g.58968T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2374,
          "referenceAllele": "T",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*269T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*269T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2973,
          "referenceAllele": "T",
          "start": 2972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1180T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1180T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "T",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.1950T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Asn650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2549,
          "referenceAllele": "T",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2436T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2436T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Asn812="
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Asn812="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2107,
          "referenceAllele": "T",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.1950T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Asn650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2103,
          "referenceAllele": "T",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2103T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Asn701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2437,
          "referenceAllele": "T",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2184T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Asn728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2276,
          "referenceAllele": "T",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2202T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Asn734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1506,
          "referenceAllele": "T",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1506T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Asn502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2593,
          "referenceAllele": "T",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1952,
          "referenceAllele": "T",
          "start": 1951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.1950T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Asn650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2260,
          "referenceAllele": "T",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2103T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Asn701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1359,
          "endIntronDirection": "-",
          "endIntronOffset": 7365,
          "referenceAllele": "T",
          "start": 1359,
          "startIntronDirection": "-",
          "startIntronOffset": 7366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1286-7366T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:n.1286-7366T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2510,
          "referenceAllele": "T",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2359,
          "referenceAllele": "T",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2202T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Asn734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 397,
          "referenceAllele": "T",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.397T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2274,
          "referenceAllele": "T",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.2202T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:p.Asn734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3234,
          "referenceAllele": "T",
          "start": 3233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3234T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1781,
          "referenceAllele": "T",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.1781T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2366,
          "referenceAllele": "T",
          "start": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2292T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Asn764="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 11048,
          "referenceAllele": "T",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 11049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.212-11049T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038451",
      "coordinates": [
        {
          "allele": "C",
          "end": 2593,
          "referenceAllele": "T",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279600",
      "coordinates": [
        {
          "allele": "C",
          "end": 2107,
          "referenceAllele": "T",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.1950T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Asn650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317819",
      "coordinates": [
        {
          "allele": "C",
          "end": 2260,
          "referenceAllele": "T",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2103T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Asn701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2498,
          "referenceAllele": "T",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2340T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Asn780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2590,
          "referenceAllele": "T",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2340T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Asn780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2421,
          "referenceAllele": "T",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2202T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Asn734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2403,
          "referenceAllele": "T",
          "start": 2402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2184T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Asn728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2570,
          "referenceAllele": "T",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2415,
          "referenceAllele": "T",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.2400T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Asn800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2169,
          "referenceAllele": "T",
          "start": 2168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.1950T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Asn650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2430,
          "referenceAllele": "T",
          "start": 2429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2340T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Asn780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.252T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Asn84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.252T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Asn84="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2442,
          "referenceAllele": "T",
          "start": 2441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2340T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Asn780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2241,
          "referenceAllele": "T",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2022T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Asn674="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "referenceAllele": "T",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1104T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Asn368="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.2655T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.2655T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.2655T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2655,
          "referenceAllele": "T",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.2655T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827325899",
      "coordinates": [
        {
          "allele": "C",
          "end": 2359,
          "referenceAllele": "T",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2202T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Asn734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329088",
      "coordinates": [
        {
          "allele": "C",
          "end": 2341,
          "referenceAllele": "T",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2184T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Asn728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3119,
          "referenceAllele": "T",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2340T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Asn780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2601,
          "referenceAllele": "T",
          "start": 2600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5485,
          "referenceAllele": "T",
          "start": 5484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.2400T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Asn800="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2747,
          "referenceAllele": "T",
          "start": 2746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2340T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Asn780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3682,
          "referenceAllele": "T",
          "start": 3681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2340T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Asn780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2497,
          "referenceAllele": "T",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2340T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Asn780="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038451",
      "coordinates": [
        {
          "allele": "C",
          "end": 2549,
          "referenceAllele": "T",
          "start": 2548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.2436T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Asn812="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2436T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2436T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Asn812="
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Asn812="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279600",
      "coordinates": [
        {
          "allele": "C",
          "end": 2063,
          "referenceAllele": "T",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.1950T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Asn650="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329088",
      "coordinates": [
        {
          "allele": "C",
          "end": 2297,
          "referenceAllele": "T",
          "start": 2296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2184T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Asn728="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317819",
      "coordinates": [
        {
          "allele": "C",
          "end": 2216,
          "referenceAllele": "T",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2103T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Asn701="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827325899",
      "coordinates": [
        {
          "allele": "C",
          "end": 2315,
          "referenceAllele": "T",
          "start": 2314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2202T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Asn734="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}