{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250082177",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=547196[alleleid]",
        "alleleId": 547196,
        "preferredName": "NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/556075",
        "RCV": [
          "RCV000672021"
        ],
        "variationId": 556075
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52520518C>G?assembly=hg19",
        "id": "chr13:g.52520518C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51946382C>G?assembly=hg38",
        "id": "chr13:g.51946382C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199623434",
        "rs": 199623434
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51946382-C-G?dataset=gnomad_r4",
        "id": "13-51946382-C-G",
        "variant": "13:51946382 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 51946382,
          "referenceAllele": "C",
          "start": 51946381
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51946382C>G",
        "CM000675.2:g.51946382C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 52520518,
          "referenceAllele": "C",
          "start": 52520517
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52520518C>G",
        "CM000675.1:g.52520518C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "G",
          "end": 51418519,
          "referenceAllele": "C",
          "start": 51418518
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51418519C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70113,
          "referenceAllele": "G",
          "start": 70112
        }
      ],
      "hgvs": [
        "NG_008806.1:g.70113G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2900,
          "referenceAllele": "G",
          "start": 2899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*795G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*795G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3499,
          "referenceAllele": "G",
          "start": 3498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*1706G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*1706G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2454,
          "referenceAllele": "G",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.2341G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Gly781Arg",
        "hgvsWellDefined": "ENSP00000500964.2:p.Gly781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3075,
          "referenceAllele": "G",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.2962G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Gly988Arg",
        "hgvsWellDefined": "ENSP00000242839.5:p.Gly988Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2962G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2962G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly988Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly988Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2498,
          "referenceAllele": "G",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.2341G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly781Arg",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2629,
          "referenceAllele": "G",
          "start": 2628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.2629G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly877Arg",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly877Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2963,
          "referenceAllele": "G",
          "start": 2962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.2710G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Gly904Arg",
        "hgvsWellDefined": "ENSP00000416738.3:p.Gly904Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2802,
          "referenceAllele": "G",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.2728G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Gly910Arg",
        "hgvsWellDefined": "ENSP00000501168.1:p.Gly910Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.1109G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3325,
          "referenceAllele": "G",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674126.1:n.3325G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1897,
          "referenceAllele": "G",
          "start": 1896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.1897G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Gly633Arg",
        "hgvsWellDefined": "ENSP00000500964.1:p.Gly633Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3119,
          "referenceAllele": "G",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.2962G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Gly988Arg",
        "hgvsWellDefined": "ENSP00000242839.4:p.Gly988Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2343,
          "referenceAllele": "G",
          "start": 2342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.2341G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly781Arg",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.2629G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly877Arg",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly877Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1746,
          "referenceAllele": "G",
          "start": 1745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.1672G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Gly558Arg",
        "hgvsWellDefined": "ENSP00000383221.3:p.Gly558Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2939,
          "endIntronDirection": "-",
          "endIntronOffset": 2090,
          "referenceAllele": "G",
          "start": 2939,
          "startIntronDirection": "-",
          "startIntronOffset": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.2866-2091G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:n.2866-2091G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.2728G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Gly910Arg",
        "hgvsWellDefined": "ENSP00000416738.2:p.Gly910Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 182,
          "referenceAllele": "G",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000466629.1:n.182G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309954"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 923,
          "referenceAllele": "G",
          "start": 922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.923G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2820,
          "referenceAllele": "G",
          "start": 2819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*63G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*63G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3706,
          "referenceAllele": "G",
          "start": 3705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.3706G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2307,
          "referenceAllele": "G",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.2307G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2892,
          "referenceAllele": "G",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.2818G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Gly940Arg",
        "hgvsWellDefined": "ENSP00000489398.1:p.Gly940Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 308,
          "referenceAllele": "G",
          "start": 307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000635406.1:n.308G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091916",
      "coordinates": [
        {
          "allele": "C",
          "end": 3119,
          "referenceAllele": "G",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.2962G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly988Arg",
        "hgvsWellDefined": "NP_000044.2:p.Gly988Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279766",
      "coordinates": [
        {
          "allele": "C",
          "end": 2498,
          "referenceAllele": "G",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.2341G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly781Arg",
        "hgvsWellDefined": "NP_001005918.1:p.Gly781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318050",
      "coordinates": [
        {
          "allele": "C",
          "end": 2786,
          "referenceAllele": "G",
          "start": 2785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.2629G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly877Arg",
        "hgvsWellDefined": "NP_001230111.1:p.Gly877Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3024,
          "referenceAllele": "G",
          "start": 3023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.2866G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Gly956Arg",
        "hgvsWellDefined": "XP_005266480.1:p.Gly956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3116,
          "referenceAllele": "G",
          "start": 3115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.2866G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly956Arg",
        "hgvsWellDefined": "XP_005266481.1:p.Gly956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2947,
          "referenceAllele": "G",
          "start": 2946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.2728G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Gly910Arg",
        "hgvsWellDefined": "XP_005266484.1:p.Gly910Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2929,
          "referenceAllele": "G",
          "start": 2928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.2710G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Gly904Arg",
        "hgvsWellDefined": "XP_005266485.1:p.Gly904Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3096,
          "referenceAllele": "G",
          "start": 3095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.2962G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly988Arg",
        "hgvsWellDefined": "XP_005266487.1:p.Gly988Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2941,
          "referenceAllele": "G",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.2926G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly976Arg",
        "hgvsWellDefined": "XP_005266488.1:p.Gly976Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2695,
          "referenceAllele": "G",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.2476G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Gly826Arg",
        "hgvsWellDefined": "XP_005266489.1:p.Gly826Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2956,
          "referenceAllele": "G",
          "start": 2955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.2866G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly956Arg",
        "hgvsWellDefined": "XP_006719900.1:p.Gly956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.778G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Gly260Arg",
        "hgvsWellDefined": "XP_006719901.1:p.Gly260Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.778G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Gly260Arg",
        "hgvsWellDefined": "XP_006719902.1:p.Gly260Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2968,
          "referenceAllele": "G",
          "start": 2967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.2866G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly956Arg",
        "hgvsWellDefined": "XP_011533419.1:p.Gly956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3046,
          "referenceAllele": "G",
          "start": 3045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.2827G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Gly943Arg",
        "hgvsWellDefined": "XP_011533420.1:p.Gly943Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "G",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.2962G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Gly988Arg",
        "hgvsWellDefined": "XP_011533421.1:p.Gly988Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2767,
          "referenceAllele": "G",
          "start": 2766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.2548G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Gly850Arg",
        "hgvsWellDefined": "XP_011533422.1:p.Gly850Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2949,
          "endIntronDirection": "+",
          "endIntronOffset": 3625,
          "referenceAllele": "G",
          "start": 2949,
          "startIntronDirection": "+",
          "startIntronOffset": 3624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.2730+3625G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:n.2730+3625G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1743,
          "referenceAllele": "G",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.1630G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Gly544Arg",
        "hgvsWellDefined": "XP_011533424.1:p.Gly544Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "G",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.3181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "G",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.3181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "G",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.3181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3181,
          "referenceAllele": "G",
          "start": 3180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.3181G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326328",
      "coordinates": [
        {
          "allele": "C",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.2728G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly910Arg",
        "hgvsWellDefined": "NP_001317507.1:p.Gly910Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329530",
      "coordinates": [
        {
          "allele": "C",
          "end": 2867,
          "referenceAllele": "G",
          "start": 2866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.2710G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly904Arg",
        "hgvsWellDefined": "NP_001317508.1:p.Gly904Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3645,
          "referenceAllele": "G",
          "start": 3644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.2866G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly956Arg",
        "hgvsWellDefined": "XP_005266481.1:p.Gly956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3127,
          "referenceAllele": "G",
          "start": 3126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.2962G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly988Arg",
        "hgvsWellDefined": "XP_005266487.1:p.Gly988Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6011,
          "referenceAllele": "G",
          "start": 6010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.2926G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly976Arg",
        "hgvsWellDefined": "XP_005266488.1:p.Gly976Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3273,
          "referenceAllele": "G",
          "start": 3272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.2866G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly956Arg",
        "hgvsWellDefined": "XP_006719900.1:p.Gly956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4208,
          "referenceAllele": "G",
          "start": 4207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.2866G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly956Arg",
        "hgvsWellDefined": "XP_011533419.1:p.Gly956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3023,
          "referenceAllele": "G",
          "start": 3022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.2866G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Gly956Arg",
        "hgvsWellDefined": "XP_016876116.1:p.Gly956Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA091916",
      "coordinates": [
        {
          "allele": "C",
          "end": 3075,
          "referenceAllele": "G",
          "start": 3074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.2962G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly988Arg",
        "hgvsWellDefined": "NP_000044.2:p.Gly988Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2962G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2962G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly988Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly988Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825279766",
      "coordinates": [
        {
          "allele": "C",
          "end": 2454,
          "referenceAllele": "G",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2341G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly781Arg",
        "hgvsWellDefined": "NP_001005918.1:p.Gly781Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827329530",
      "coordinates": [
        {
          "allele": "C",
          "end": 2823,
          "referenceAllele": "G",
          "start": 2822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2710G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly904Arg",
        "hgvsWellDefined": "NP_001317508.1:p.Gly904Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318050",
      "coordinates": [
        {
          "allele": "C",
          "end": 2742,
          "referenceAllele": "G",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2629G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly877Arg",
        "hgvsWellDefined": "NP_001230111.1:p.Gly877Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827326328",
      "coordinates": [
        {
          "allele": "C",
          "end": 2841,
          "referenceAllele": "G",
          "start": 2840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2728G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly910Arg",
        "hgvsWellDefined": "NP_001317507.1:p.Gly910Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}