{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA388029883",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063016[alleleid]",
        "alleleId": 1063016,
        "preferredName": "NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1069926",
        "RCV": [
          "RCV001381921"
        ],
        "variationId": 1069926
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52518282T>C?assembly=hg19",
        "id": "chr13:g.52518282T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51944146T>C?assembly=hg38",
        "id": "chr13:g.51944146T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201738147",
        "rs": 201738147
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51944146,
          "referenceAllele": "T",
          "start": 51944145
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51944146T>C",
        "CM000675.2:g.51944146T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 52518282,
          "referenceAllele": "T",
          "start": 52518281
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52518282T>C",
        "CM000675.1:g.52518282T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 51416283,
          "referenceAllele": "T",
          "start": 51416282
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51416283T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 72349,
          "referenceAllele": "A",
          "start": 72348
        }
      ],
      "hgvs": [
        "NG_008806.1:g.72349A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2998,
          "endIntronDirection": "-",
          "endIntronOffset": 1591,
          "referenceAllele": "A",
          "start": 2998,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*894-1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*894-1592A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3743,
          "referenceAllele": "A",
          "start": 3742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1950A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1950A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2698,
          "referenceAllele": "A",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2585A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.His862Arg",
        "hgvsWellDefined": "ENSP00000500964.2:p.His862Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3319,
          "referenceAllele": "A",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.His1069Arg",
        "hgvsWellDefined": "ENSP00000242839.5:p.His1069Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3206A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3206A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.His1069Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.His1069Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2742,
          "referenceAllele": "A",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2585A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.His862Arg",
        "hgvsWellDefined": "ENSP00000342559.5:p.His862Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2873,
          "referenceAllele": "A",
          "start": 2872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2873A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.His958Arg",
        "hgvsWellDefined": "ENSP00000383217.3:p.His958Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3207,
          "referenceAllele": "A",
          "start": 3206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2954A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.His985Arg",
        "hgvsWellDefined": "ENSP00000416738.3:p.His985Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3046,
          "referenceAllele": "A",
          "start": 3045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2972A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.His991Arg",
        "hgvsWellDefined": "ENSP00000501168.1:p.His991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3345,
          "referenceAllele": "A",
          "start": 3344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.3345A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3569,
          "referenceAllele": "A",
          "start": 3568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674126.1:n.3569A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2141,
          "referenceAllele": "A",
          "start": 2140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.2141A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.His714Arg",
        "hgvsWellDefined": "ENSP00000500964.1:p.His714Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3363,
          "referenceAllele": "A",
          "start": 3362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.His1069Arg",
        "hgvsWellDefined": "ENSP00000242839.4:p.His1069Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2587,
          "referenceAllele": "A",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2585A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.His862Arg",
        "hgvsWellDefined": "ENSP00000342559.5:p.His862Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3030,
          "referenceAllele": "A",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2873A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.His958Arg",
        "hgvsWellDefined": "ENSP00000383217.3:p.His958Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1990,
          "referenceAllele": "A",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1916A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.His639Arg",
        "hgvsWellDefined": "ENSP00000383221.3:p.His639Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3085,
          "referenceAllele": "A",
          "start": 3084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.3011A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.His1004Arg",
        "hgvsWellDefined": "ENSP00000393343.2:p.His1004Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3129,
          "referenceAllele": "A",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2972A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.His991Arg",
        "hgvsWellDefined": "ENSP00000416738.2:p.His991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 426,
          "referenceAllele": "A",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000466629.1:n.426A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309954"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 1591,
          "referenceAllele": "A",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1022-1592A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3064,
          "referenceAllele": "A",
          "start": 3063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*307A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*307A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3950,
          "referenceAllele": "A",
          "start": 3949
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3950A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2551,
          "referenceAllele": "A",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2551A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3136,
          "referenceAllele": "A",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.3062A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.His1021Arg",
        "hgvsWellDefined": "ENSP00000489398.1:p.His1021Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038699",
      "coordinates": [
        {
          "allele": "G",
          "end": 3363,
          "referenceAllele": "A",
          "start": 3362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.His1069Arg",
        "hgvsWellDefined": "NP_000044.2:p.His1069Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279901",
      "coordinates": [
        {
          "allele": "G",
          "end": 2742,
          "referenceAllele": "A",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2585A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.His862Arg",
        "hgvsWellDefined": "NP_001005918.1:p.His862Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318186",
      "coordinates": [
        {
          "allele": "G",
          "end": 3030,
          "referenceAllele": "A",
          "start": 3029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2873A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.His958Arg",
        "hgvsWellDefined": "NP_001230111.1:p.His958Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3268,
          "referenceAllele": "A",
          "start": 3267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.3110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.His1037Arg",
        "hgvsWellDefined": "XP_005266480.1:p.His1037Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3360,
          "referenceAllele": "A",
          "start": 3359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.3110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.His1037Arg",
        "hgvsWellDefined": "XP_005266481.1:p.His1037Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3191,
          "referenceAllele": "A",
          "start": 3190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2972A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.His991Arg",
        "hgvsWellDefined": "XP_005266484.1:p.His991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3173,
          "referenceAllele": "A",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2954A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.His985Arg",
        "hgvsWellDefined": "XP_005266485.1:p.His985Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3340,
          "referenceAllele": "A",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.His1069Arg",
        "hgvsWellDefined": "XP_005266487.1:p.His1069Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3185,
          "referenceAllele": "A",
          "start": 3184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.3170A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.His1057Arg",
        "hgvsWellDefined": "XP_005266488.1:p.His1057Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2939,
          "referenceAllele": "A",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.2720A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.His907Arg",
        "hgvsWellDefined": "XP_005266489.1:p.His907Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3200,
          "referenceAllele": "A",
          "start": 3199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.3110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.His1037Arg",
        "hgvsWellDefined": "XP_006719900.1:p.His1037Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1158,
          "referenceAllele": "A",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.1022A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.His341Arg",
        "hgvsWellDefined": "XP_006719901.1:p.His341Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1012,
          "endIntronDirection": "-",
          "endIntronOffset": 1591,
          "referenceAllele": "A",
          "start": 1012,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.877-1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:n.877-1592A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3212,
          "referenceAllele": "A",
          "start": 3211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.3110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.His1037Arg",
        "hgvsWellDefined": "XP_011533419.1:p.His1037Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3290,
          "referenceAllele": "A",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.3071A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.His1024Arg",
        "hgvsWellDefined": "XP_011533420.1:p.His1024Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3279,
          "endIntronDirection": "-",
          "endIntronOffset": 1591,
          "referenceAllele": "A",
          "start": 3279,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.3061-1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:n.3061-1592A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3011,
          "referenceAllele": "A",
          "start": 3010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2792A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.His931Arg",
        "hgvsWellDefined": "XP_011533422.1:p.His931Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2949,
          "endIntronDirection": "-",
          "endIntronOffset": 1591,
          "referenceAllele": "A",
          "start": 2949,
          "startIntronDirection": "-",
          "startIntronOffset": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2731-1592A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:n.2731-1592A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1987,
          "referenceAllele": "A",
          "start": 1986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1874A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.His625Arg",
        "hgvsWellDefined": "XP_011533424.1:p.His625Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3425,
          "referenceAllele": "A",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3425A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3425,
          "referenceAllele": "A",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3425A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3425,
          "referenceAllele": "A",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3425A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3425,
          "referenceAllele": "A",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3425A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249721",
      "coordinates": [
        {
          "allele": "G",
          "end": 3129,
          "referenceAllele": "A",
          "start": 3128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2972A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.His991Arg",
        "hgvsWellDefined": "NP_001317507.1:p.His991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329713",
      "coordinates": [
        {
          "allele": "G",
          "end": 3111,
          "referenceAllele": "A",
          "start": 3110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2954A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.His985Arg",
        "hgvsWellDefined": "NP_001317508.1:p.His985Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3889,
          "referenceAllele": "A",
          "start": 3888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.3110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.His1037Arg",
        "hgvsWellDefined": "XP_005266481.1:p.His1037Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3371,
          "referenceAllele": "A",
          "start": 3370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.His1069Arg",
        "hgvsWellDefined": "XP_005266487.1:p.His1069Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6255,
          "referenceAllele": "A",
          "start": 6254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.3170A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.His1057Arg",
        "hgvsWellDefined": "XP_005266488.1:p.His1057Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3517,
          "referenceAllele": "A",
          "start": 3516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.3110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.His1037Arg",
        "hgvsWellDefined": "XP_006719900.1:p.His1037Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4452,
          "referenceAllele": "A",
          "start": 4451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.3110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.His1037Arg",
        "hgvsWellDefined": "XP_011533419.1:p.His1037Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3267,
          "referenceAllele": "A",
          "start": 3266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.3110A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.His1037Arg",
        "hgvsWellDefined": "XP_016876116.1:p.His1037Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038699",
      "coordinates": [
        {
          "allele": "G",
          "end": 3319,
          "referenceAllele": "A",
          "start": 3318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.3206A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.His1069Arg",
        "hgvsWellDefined": "NP_000044.2:p.His1069Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3206A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3206A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.His1069Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.His1069Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279901",
      "coordinates": [
        {
          "allele": "G",
          "end": 2698,
          "referenceAllele": "A",
          "start": 2697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2585A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.His862Arg",
        "hgvsWellDefined": "NP_001005918.1:p.His862Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329713",
      "coordinates": [
        {
          "allele": "G",
          "end": 3067,
          "referenceAllele": "A",
          "start": 3066
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2954A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.His985Arg",
        "hgvsWellDefined": "NP_001317508.1:p.His985Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318186",
      "coordinates": [
        {
          "allele": "G",
          "end": 2986,
          "referenceAllele": "A",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2873A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.His958Arg",
        "hgvsWellDefined": "NP_001230111.1:p.His958Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249721",
      "coordinates": [
        {
          "allele": "G",
          "end": 3085,
          "referenceAllele": "A",
          "start": 3084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2972A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.His991Arg",
        "hgvsWellDefined": "NP_001317507.1:p.His991Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}