{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6988979",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547204[alleleid]",
        "alleleId": 547204,
        "preferredName": "NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/554444",
        "RCV": [
          "RCV000670079",
          "RCV001509442"
        ],
        "variationId": 554444
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52524434-G-A",
        "id": "13-52524434-G-A",
        "variant": "13:52524434 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52524434G>A?assembly=hg19",
        "id": "chr13:g.52524434G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51950298G>A?assembly=hg38",
        "id": "chr13:g.51950298G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/777629392",
        "rs": 777629392
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52524434-G-A?dataset=gnomad_r2_1",
        "id": "13-52524434-G-A",
        "variant": "13:52524434 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51950298-G-A?dataset=gnomad_r3",
        "id": "13-51950298-G-A",
        "variant": "13:51950298 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51950298-G-A?dataset=gnomad_r4",
        "id": "13-51950298-G-A",
        "variant": "13:51950298 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51950298,
          "referenceAllele": "G",
          "start": 51950297
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51950298G>A",
        "CM000675.2:g.51950298G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 52524434,
          "referenceAllele": "G",
          "start": 52524433
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52524434G>A",
        "CM000675.1:g.52524434G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51422435,
          "referenceAllele": "G",
          "start": 51422434
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51422435G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66197,
          "referenceAllele": "C",
          "start": 66196
        }
      ],
      "hgvs": [
        "NG_008806.1:g.66197C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2487,
          "referenceAllele": "C",
          "start": 2486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*382C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*382C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3086,
          "referenceAllele": "C",
          "start": 3085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1293C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2063C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Thr688Ile",
        "hgvsWellDefined": "ENSP00000500964.2:p.Thr688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2662,
          "referenceAllele": "C",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Thr850Ile",
        "hgvsWellDefined": "ENSP00000242839.5:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2549C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2549C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Thr850Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Thr850Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2063C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Thr688Ile",
        "hgvsWellDefined": "ENSP00000342559.5:p.Thr688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "C",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Thr739Ile",
        "hgvsWellDefined": "ENSP00000383217.3:p.Thr739Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2550,
          "referenceAllele": "C",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2297C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Thr766Ile",
        "hgvsWellDefined": "ENSP00000416738.3:p.Thr766Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2389,
          "referenceAllele": "C",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Thr772Ile",
        "hgvsWellDefined": "ENSP00000501168.1:p.Thr772Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1619,
          "referenceAllele": "C",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1619C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Thr540Ile",
        "hgvsWellDefined": "ENSP00000500964.1:p.Thr540Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2706,
          "referenceAllele": "C",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Thr850Ile",
        "hgvsWellDefined": "ENSP00000242839.4:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2065,
          "referenceAllele": "C",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2063C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Thr688Ile",
        "hgvsWellDefined": "ENSP00000342559.5:p.Thr688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "referenceAllele": "C",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2216C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Thr739Ile",
        "hgvsWellDefined": "ENSP00000383217.3:p.Thr739Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "endIntronDirection": "-",
          "endIntronOffset": 136,
          "referenceAllele": "C",
          "start": 1359,
          "startIntronDirection": "-",
          "startIntronOffset": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1286-137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:n.1286-137C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2623,
          "referenceAllele": "C",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Thr850Ile",
        "hgvsWellDefined": "ENSP00000393343.2:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Thr772Ile",
        "hgvsWellDefined": "ENSP00000416738.2:p.Thr772Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 510,
          "referenceAllele": "C",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.510C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2387,
          "referenceAllele": "C",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.2315C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:p.Thr772Ile",
        "hgvsWellDefined": "ENSP00000489234.1:p.Thr772Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3347,
          "referenceAllele": "C",
          "start": 3346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3347C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1894,
          "referenceAllele": "C",
          "start": 1893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.1894C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2479,
          "referenceAllele": "C",
          "start": 2478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Thr802Ile",
        "hgvsWellDefined": "ENSP00000489398.1:p.Thr802Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 3819,
          "referenceAllele": "C",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 3820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.212-3820C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826457",
      "coordinates": [
        {
          "allele": "T",
          "end": 2706,
          "referenceAllele": "C",
          "start": 2705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Thr850Ile",
        "hgvsWellDefined": "NP_000044.2:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279648",
      "coordinates": [
        {
          "allele": "T",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2063C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Thr688Ile",
        "hgvsWellDefined": "NP_001005918.1:p.Thr688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317869",
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "referenceAllele": "C",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2216C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Thr739Ile",
        "hgvsWellDefined": "NP_001230111.1:p.Thr739Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2611,
          "referenceAllele": "C",
          "start": 2610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Thr818Ile",
        "hgvsWellDefined": "XP_005266480.1:p.Thr818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2703,
          "referenceAllele": "C",
          "start": 2702
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Thr818Ile",
        "hgvsWellDefined": "XP_005266481.1:p.Thr818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "C",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2315C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Thr772Ile",
        "hgvsWellDefined": "XP_005266484.1:p.Thr772Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2297C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Thr766Ile",
        "hgvsWellDefined": "XP_005266485.1:p.Thr766Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2683,
          "referenceAllele": "C",
          "start": 2682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Thr850Ile",
        "hgvsWellDefined": "XP_005266487.1:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "C",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.2513C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Thr838Ile",
        "hgvsWellDefined": "XP_005266488.1:p.Thr838Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2282,
          "referenceAllele": "C",
          "start": 2281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.2063C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Thr688Ile",
        "hgvsWellDefined": "XP_005266489.1:p.Thr688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2543,
          "referenceAllele": "C",
          "start": 2542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Thr818Ile",
        "hgvsWellDefined": "XP_006719900.1:p.Thr818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.365C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Thr122Ile",
        "hgvsWellDefined": "XP_006719901.1:p.Thr122Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.365C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Thr122Ile",
        "hgvsWellDefined": "XP_006719902.1:p.Thr122Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2555,
          "referenceAllele": "C",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Thr818Ile",
        "hgvsWellDefined": "XP_011533419.1:p.Thr818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Thr850Ile",
        "hgvsWellDefined": "XP_011533420.1:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Thr850Ile",
        "hgvsWellDefined": "XP_011533421.1:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2135C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Thr712Ile",
        "hgvsWellDefined": "XP_011533422.1:p.Thr712Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Thr850Ile",
        "hgvsWellDefined": "XP_011533423.1:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1217C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Thr406Ile",
        "hgvsWellDefined": "XP_011533424.1:p.Thr406Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.2768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.2768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.2768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2768,
          "referenceAllele": "C",
          "start": 2767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.2768C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827325990",
      "coordinates": [
        {
          "allele": "T",
          "end": 2472,
          "referenceAllele": "C",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Thr772Ile",
        "hgvsWellDefined": "NP_001317507.1:p.Thr772Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329186",
      "coordinates": [
        {
          "allele": "T",
          "end": 2454,
          "referenceAllele": "C",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2297C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Thr766Ile",
        "hgvsWellDefined": "NP_001317508.1:p.Thr766Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3232,
          "referenceAllele": "C",
          "start": 3231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Thr818Ile",
        "hgvsWellDefined": "XP_005266481.1:p.Thr818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2714,
          "referenceAllele": "C",
          "start": 2713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Thr850Ile",
        "hgvsWellDefined": "XP_005266487.1:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5598,
          "referenceAllele": "C",
          "start": 5597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.2513C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Thr838Ile",
        "hgvsWellDefined": "XP_005266488.1:p.Thr838Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2860,
          "referenceAllele": "C",
          "start": 2859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Thr818Ile",
        "hgvsWellDefined": "XP_006719900.1:p.Thr818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3795,
          "referenceAllele": "C",
          "start": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Thr818Ile",
        "hgvsWellDefined": "XP_011533419.1:p.Thr818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2610,
          "referenceAllele": "C",
          "start": 2609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2453C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Thr818Ile",
        "hgvsWellDefined": "XP_016876116.1:p.Thr818Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826457",
      "coordinates": [
        {
          "allele": "T",
          "end": 2662,
          "referenceAllele": "C",
          "start": 2661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.2549C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Thr850Ile",
        "hgvsWellDefined": "NP_000044.2:p.Thr850Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2549C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2549C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Thr850Ile"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Thr850Ile"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279648",
      "coordinates": [
        {
          "allele": "T",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2063C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Thr688Ile",
        "hgvsWellDefined": "NP_001005918.1:p.Thr688Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329186",
      "coordinates": [
        {
          "allele": "T",
          "end": 2410,
          "referenceAllele": "C",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2297C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Thr766Ile",
        "hgvsWellDefined": "NP_001317508.1:p.Thr766Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317869",
      "coordinates": [
        {
          "allele": "T",
          "end": 2329,
          "referenceAllele": "C",
          "start": 2328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2216C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Thr739Ile",
        "hgvsWellDefined": "NP_001230111.1:p.Thr739Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827325990",
      "coordinates": [
        {
          "allele": "T",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2315C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Thr772Ile",
        "hgvsWellDefined": "NP_001317507.1:p.Thr772Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}