{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6988994",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=947993",
        "active": true,
        "id": "COSM947993"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=270118[alleleid]",
        "alleleId": 270118,
        "preferredName": "NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285881",
        "RCV": [
          "RCV000327770",
          "RCV001242406",
          "RCV001582911"
        ],
        "variationId": 285881
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52524504-G-A",
        "id": "13-52524504-G-A",
        "variant": "13:52524504 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52524504G>A?assembly=hg19",
        "id": "chr13:g.52524504G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51950368G>A?assembly=hg38",
        "id": "chr13:g.51950368G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/539585071",
        "rs": 539585071
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52524504-G-A?dataset=gnomad_r2_1",
        "id": "13-52524504-G-A",
        "variant": "13:52524504 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51950368-G-A?dataset=gnomad_r3",
        "id": "13-51950368-G-A",
        "variant": "13:51950368 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51950368-G-A?dataset=gnomad_r4",
        "id": "13-51950368-G-A",
        "variant": "13:51950368 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51950368,
          "referenceAllele": "G",
          "start": 51950367
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51950368G>A",
        "CM000675.2:g.51950368G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 52524504,
          "referenceAllele": "G",
          "start": 52524503
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52524504G>A",
        "CM000675.1:g.52524504G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "A",
          "end": 51422505,
          "referenceAllele": "G",
          "start": 51422504
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51422505G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66127,
          "referenceAllele": "C",
          "start": 66126
        }
      ],
      "hgvs": [
        "NG_008806.1:g.66127C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2417,
          "referenceAllele": "C",
          "start": 2416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*312C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3016,
          "referenceAllele": "C",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1223C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Arg665Trp",
        "hgvsWellDefined": "ENSP00000500964.2:p.Arg665Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2592,
          "referenceAllele": "C",
          "start": 2591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Arg827Trp",
        "hgvsWellDefined": "ENSP00000242839.5:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2479C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2479C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Arg827Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Arg827Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Arg665Trp",
        "hgvsWellDefined": "ENSP00000342559.5:p.Arg665Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2146C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Arg716Trp",
        "hgvsWellDefined": "ENSP00000383217.3:p.Arg716Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2480,
          "referenceAllele": "C",
          "start": 2479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2227C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Arg743Trp",
        "hgvsWellDefined": "ENSP00000416738.3:p.Arg743Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Arg749Trp",
        "hgvsWellDefined": "ENSP00000501168.1:p.Arg749Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "C",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1549C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Arg517Trp",
        "hgvsWellDefined": "ENSP00000500964.1:p.Arg517Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2636,
          "referenceAllele": "C",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Arg827Trp",
        "hgvsWellDefined": "ENSP00000242839.4:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Arg665Trp",
        "hgvsWellDefined": "ENSP00000342559.5:p.Arg665Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2303,
          "referenceAllele": "C",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2146C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Arg716Trp",
        "hgvsWellDefined": "ENSP00000383217.3:p.Arg716Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "endIntronDirection": "-",
          "endIntronOffset": 206,
          "referenceAllele": "C",
          "start": 1359,
          "startIntronDirection": "-",
          "startIntronOffset": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1286-207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:n.1286-207C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2553,
          "referenceAllele": "C",
          "start": 2552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Arg827Trp",
        "hgvsWellDefined": "ENSP00000393343.2:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "C",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Arg749Trp",
        "hgvsWellDefined": "ENSP00000416738.2:p.Arg749Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.440C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.2245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:p.Arg749Trp",
        "hgvsWellDefined": "ENSP00000489234.1:p.Arg749Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3277,
          "referenceAllele": "C",
          "start": 3276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3277C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1824,
          "referenceAllele": "C",
          "start": 1823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.1824C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2409,
          "referenceAllele": "C",
          "start": 2408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2335C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Arg779Trp",
        "hgvsWellDefined": "ENSP00000489398.1:p.Arg779Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "endIntronDirection": "-",
          "endIntronOffset": 3889,
          "referenceAllele": "C",
          "start": 211,
          "startIntronDirection": "-",
          "startIntronOffset": 3890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.212-3890C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645390973",
      "coordinates": [
        {
          "allele": "T",
          "end": 2636,
          "referenceAllele": "C",
          "start": 2635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Arg827Trp",
        "hgvsWellDefined": "NP_000044.2:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279610",
      "coordinates": [
        {
          "allele": "T",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Arg665Trp",
        "hgvsWellDefined": "NP_001005918.1:p.Arg665Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317834",
      "coordinates": [
        {
          "allele": "T",
          "end": 2303,
          "referenceAllele": "C",
          "start": 2302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2146C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Arg716Trp",
        "hgvsWellDefined": "NP_001230111.1:p.Arg716Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2541,
          "referenceAllele": "C",
          "start": 2540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Arg795Trp",
        "hgvsWellDefined": "XP_005266480.1:p.Arg795Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2633,
          "referenceAllele": "C",
          "start": 2632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Arg795Trp",
        "hgvsWellDefined": "XP_005266481.1:p.Arg795Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2464,
          "referenceAllele": "C",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2245C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Arg749Trp",
        "hgvsWellDefined": "XP_005266484.1:p.Arg749Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2446,
          "referenceAllele": "C",
          "start": 2445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2227C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Arg743Trp",
        "hgvsWellDefined": "XP_005266485.1:p.Arg743Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2613,
          "referenceAllele": "C",
          "start": 2612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Arg827Trp",
        "hgvsWellDefined": "XP_005266487.1:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "referenceAllele": "C",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.2443C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Arg815Trp",
        "hgvsWellDefined": "XP_005266488.1:p.Arg815Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2212,
          "referenceAllele": "C",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Arg665Trp",
        "hgvsWellDefined": "XP_005266489.1:p.Arg665Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2473,
          "referenceAllele": "C",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Arg795Trp",
        "hgvsWellDefined": "XP_006719900.1:p.Arg795Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Arg99Trp",
        "hgvsWellDefined": "XP_006719901.1:p.Arg99Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Arg99Trp",
        "hgvsWellDefined": "XP_006719902.1:p.Arg99Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2485,
          "referenceAllele": "C",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Arg795Trp",
        "hgvsWellDefined": "XP_011533419.1:p.Arg795Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Arg827Trp",
        "hgvsWellDefined": "XP_011533420.1:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Arg827Trp",
        "hgvsWellDefined": "XP_011533421.1:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2284,
          "referenceAllele": "C",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2065C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Arg689Trp",
        "hgvsWellDefined": "XP_011533422.1:p.Arg689Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Arg827Trp",
        "hgvsWellDefined": "XP_011533423.1:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Arg383Trp",
        "hgvsWellDefined": "XP_011533424.1:p.Arg383Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.2698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.2698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.2698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2698,
          "referenceAllele": "C",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.2698C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827325918",
      "coordinates": [
        {
          "allele": "T",
          "end": 2402,
          "referenceAllele": "C",
          "start": 2401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Arg749Trp",
        "hgvsWellDefined": "NP_001317507.1:p.Arg749Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329113",
      "coordinates": [
        {
          "allele": "T",
          "end": 2384,
          "referenceAllele": "C",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2227C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Arg743Trp",
        "hgvsWellDefined": "NP_001317508.1:p.Arg743Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3162,
          "referenceAllele": "C",
          "start": 3161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Arg795Trp",
        "hgvsWellDefined": "XP_005266481.1:p.Arg795Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2644,
          "referenceAllele": "C",
          "start": 2643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Arg827Trp",
        "hgvsWellDefined": "XP_005266487.1:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5528,
          "referenceAllele": "C",
          "start": 5527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.2443C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Arg815Trp",
        "hgvsWellDefined": "XP_005266488.1:p.Arg815Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2790,
          "referenceAllele": "C",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Arg795Trp",
        "hgvsWellDefined": "XP_006719900.1:p.Arg795Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3725,
          "referenceAllele": "C",
          "start": 3724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Arg795Trp",
        "hgvsWellDefined": "XP_011533419.1:p.Arg795Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2540,
          "referenceAllele": "C",
          "start": 2539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2383C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Arg795Trp",
        "hgvsWellDefined": "XP_016876116.1:p.Arg795Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645390973",
      "coordinates": [
        {
          "allele": "T",
          "end": 2592,
          "referenceAllele": "C",
          "start": 2591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.2479C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Arg827Trp",
        "hgvsWellDefined": "NP_000044.2:p.Arg827Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2479C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2479C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Arg827Trp"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Arg827Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279610",
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Arg665Trp",
        "hgvsWellDefined": "NP_001005918.1:p.Arg665Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329113",
      "coordinates": [
        {
          "allele": "T",
          "end": 2340,
          "referenceAllele": "C",
          "start": 2339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2227C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Arg743Trp",
        "hgvsWellDefined": "NP_001317508.1:p.Arg743Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826317834",
      "coordinates": [
        {
          "allele": "T",
          "end": 2259,
          "referenceAllele": "C",
          "start": 2258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2146C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Arg716Trp",
        "hgvsWellDefined": "NP_001230111.1:p.Arg716Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827325918",
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Arg749Trp",
        "hgvsWellDefined": "NP_001317507.1:p.Arg749Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}