{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6988455",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4575974"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=437956[alleleid]",
        "alleleId": 437956,
        "preferredName": "NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/444316",
        "RCV": [
          "RCV000513406",
          "RCV000670982",
          "RCV003488645"
        ],
        "variationId": 444316
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-52509077-C-T",
        "id": "13-52509077-C-T",
        "variant": "13:52509077 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52509077C>T?assembly=hg19",
        "id": "chr13:g.52509077C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51934941C>T?assembly=hg38",
        "id": "chr13:g.51934941C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/189601972",
        "rs": 189601972
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-52509077-C-T?dataset=gnomad_r2_1",
        "id": "13-52509077-C-T",
        "variant": "13:52509077 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51934941-C-T?dataset=gnomad_r3",
        "id": "13-51934941-C-T",
        "variant": "13:51934941 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51934941-C-T?dataset=gnomad_r4",
        "id": "13-51934941-C-T",
        "variant": "13:51934941 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51934941,
          "referenceAllele": "C",
          "start": 51934940
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51934941C>T",
        "CM000675.2:g.51934941C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 52509077,
          "referenceAllele": "C",
          "start": 52509076
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52509077C>T",
        "CM000675.1:g.52509077C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51407078,
          "referenceAllele": "C",
          "start": 51407077
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51407078C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81554,
          "referenceAllele": "G",
          "start": 81553
        }
      ],
      "hgvs": [
        "NG_008806.1:g.81554G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3968,
          "referenceAllele": "G",
          "start": 3967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*1863G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*1863G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4750,
          "referenceAllele": "G",
          "start": 4749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*2957G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*2957G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3705,
          "referenceAllele": "G",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.3592G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Gly1198Ser",
        "hgvsWellDefined": "ENSP00000500964.2:p.Gly1198Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4326,
          "referenceAllele": "G",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.4213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Gly1405Ser",
        "hgvsWellDefined": "ENSP00000242839.5:p.Gly1405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.4213G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.4213G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly1405Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly1405Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3749,
          "referenceAllele": "G",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.3592G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly1198Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly1198Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3880,
          "referenceAllele": "G",
          "start": 3879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.3880G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly1294Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly1294Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4214,
          "referenceAllele": "G",
          "start": 4213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.3961G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Gly1321Ser",
        "hgvsWellDefined": "ENSP00000416738.3:p.Gly1321Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673696.1:n.1536G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4053,
          "referenceAllele": "G",
          "start": 4052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.3979G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Gly1327Ser",
        "hgvsWellDefined": "ENSP00000501168.1:p.Gly1327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4352,
          "referenceAllele": "G",
          "start": 4351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.4352G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1079,
          "referenceAllele": "G",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673923.1:n.1079G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3148,
          "referenceAllele": "G",
          "start": 3147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.3148G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Gly1050Ser",
        "hgvsWellDefined": "ENSP00000500964.1:p.Gly1050Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4370,
          "referenceAllele": "G",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.4213G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Gly1405Ser",
        "hgvsWellDefined": "ENSP00000242839.4:p.Gly1405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3594,
          "referenceAllele": "G",
          "start": 3593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.3592G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Gly1198Ser",
        "hgvsWellDefined": "ENSP00000342559.5:p.Gly1198Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.3880G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Gly1294Ser",
        "hgvsWellDefined": "ENSP00000383217.3:p.Gly1294Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2997,
          "referenceAllele": "G",
          "start": 2996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.2923G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Gly975Ser",
        "hgvsWellDefined": "ENSP00000383221.3:p.Gly975Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4092,
          "referenceAllele": "G",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.4018G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Gly1340Ser",
        "hgvsWellDefined": "ENSP00000393343.2:p.Gly1340Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4136,
          "referenceAllele": "G",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.3979G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Gly1327Ser",
        "hgvsWellDefined": "ENSP00000416738.2:p.Gly1327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1991,
          "referenceAllele": "G",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.1991G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4071,
          "referenceAllele": "G",
          "start": 4070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*1314G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*1314G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4957,
          "referenceAllele": "G",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.4957G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3558,
          "referenceAllele": "G",
          "start": 3557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.3558G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4143,
          "referenceAllele": "G",
          "start": 4142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.4069G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Gly1357Ser",
        "hgvsWellDefined": "ENSP00000489398.1:p.Gly1357Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658654649",
      "coordinates": [
        {
          "allele": "A",
          "end": 4370,
          "referenceAllele": "G",
          "start": 4369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.4213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly1405Ser",
        "hgvsWellDefined": "NP_000044.2:p.Gly1405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280347",
      "coordinates": [
        {
          "allele": "A",
          "end": 3749,
          "referenceAllele": "G",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.3592G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly1198Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Gly1198Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318665",
      "coordinates": [
        {
          "allele": "A",
          "end": 4037,
          "referenceAllele": "G",
          "start": 4036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.3880G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly1294Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Gly1294Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4275,
          "referenceAllele": "G",
          "start": 4274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.4117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Gly1373Ser",
        "hgvsWellDefined": "XP_005266480.1:p.Gly1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4367,
          "referenceAllele": "G",
          "start": 4366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.4117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly1373Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Gly1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4198,
          "referenceAllele": "G",
          "start": 4197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.3979G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Gly1327Ser",
        "hgvsWellDefined": "XP_005266484.1:p.Gly1327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4180,
          "referenceAllele": "G",
          "start": 4179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.3961G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Gly1321Ser",
        "hgvsWellDefined": "XP_005266485.1:p.Gly1321Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4347,
          "referenceAllele": "G",
          "start": 4346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.4213G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly1405Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Gly1405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4192,
          "referenceAllele": "G",
          "start": 4191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.4177G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly1393Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Gly1393Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3946,
          "referenceAllele": "G",
          "start": 3945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.3727G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Gly1243Ser",
        "hgvsWellDefined": "XP_005266489.1:p.Gly1243Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4207,
          "referenceAllele": "G",
          "start": 4206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.4117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly1373Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Gly1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2165,
          "referenceAllele": "G",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.2029G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Gly677Ser",
        "hgvsWellDefined": "XP_006719901.1:p.Gly677Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1982,
          "referenceAllele": "G",
          "start": 1981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.1846G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Gly616Ser",
        "hgvsWellDefined": "XP_006719902.1:p.Gly616Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4219,
          "referenceAllele": "G",
          "start": 4218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.4117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly1373Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Gly1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4297,
          "referenceAllele": "G",
          "start": 4296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.4078G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Gly1360Ser",
        "hgvsWellDefined": "XP_011533420.1:p.Gly1360Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4249,
          "referenceAllele": "G",
          "start": 4248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.4030G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Gly1344Ser",
        "hgvsWellDefined": "XP_011533421.1:p.Gly1344Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4018,
          "referenceAllele": "G",
          "start": 4017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.3799G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Gly1267Ser",
        "hgvsWellDefined": "XP_011533422.1:p.Gly1267Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3919,
          "referenceAllele": "G",
          "start": 3918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.3700G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Gly1234Ser",
        "hgvsWellDefined": "XP_011533423.1:p.Gly1234Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2994,
          "referenceAllele": "G",
          "start": 2993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.2881G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Gly961Ser",
        "hgvsWellDefined": "XP_011533424.1:p.Gly961Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4432,
          "referenceAllele": "G",
          "start": 4431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.4432G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4432,
          "referenceAllele": "G",
          "start": 4431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.4432G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4432,
          "referenceAllele": "G",
          "start": 4431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.4432G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4432,
          "referenceAllele": "G",
          "start": 4431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.4432G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327463",
      "coordinates": [
        {
          "allele": "A",
          "end": 4136,
          "referenceAllele": "G",
          "start": 4135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.3979G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly1327Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Gly1327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330561",
      "coordinates": [
        {
          "allele": "A",
          "end": 4118,
          "referenceAllele": "G",
          "start": 4117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.3961G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly1321Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Gly1321Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4896,
          "referenceAllele": "G",
          "start": 4895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.4117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Gly1373Ser",
        "hgvsWellDefined": "XP_005266481.1:p.Gly1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4378,
          "referenceAllele": "G",
          "start": 4377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.4213G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Gly1405Ser",
        "hgvsWellDefined": "XP_005266487.1:p.Gly1405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7262,
          "referenceAllele": "G",
          "start": 7261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.4177G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Gly1393Ser",
        "hgvsWellDefined": "XP_005266488.1:p.Gly1393Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4524,
          "referenceAllele": "G",
          "start": 4523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.4117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Gly1373Ser",
        "hgvsWellDefined": "XP_006719900.1:p.Gly1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5459,
          "referenceAllele": "G",
          "start": 5458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.4117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gly1373Ser",
        "hgvsWellDefined": "XP_011533419.1:p.Gly1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4274,
          "referenceAllele": "G",
          "start": 4273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.4117G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Gly1373Ser",
        "hgvsWellDefined": "XP_016876116.1:p.Gly1373Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658654649",
      "coordinates": [
        {
          "allele": "A",
          "end": 4326,
          "referenceAllele": "G",
          "start": 4325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.4213G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gly1405Ser",
        "hgvsWellDefined": "NP_000044.2:p.Gly1405Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.4213G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.4213G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gly1405Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gly1405Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280347",
      "coordinates": [
        {
          "allele": "A",
          "end": 3705,
          "referenceAllele": "G",
          "start": 3704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.3592G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gly1198Ser",
        "hgvsWellDefined": "NP_001005918.1:p.Gly1198Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330561",
      "coordinates": [
        {
          "allele": "A",
          "end": 4074,
          "referenceAllele": "G",
          "start": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3961G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gly1321Ser",
        "hgvsWellDefined": "NP_001317508.1:p.Gly1321Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318665",
      "coordinates": [
        {
          "allele": "A",
          "end": 3993,
          "referenceAllele": "G",
          "start": 3992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3880G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gly1294Ser",
        "hgvsWellDefined": "NP_001230111.1:p.Gly1294Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327463",
      "coordinates": [
        {
          "allele": "A",
          "end": 4092,
          "referenceAllele": "G",
          "start": 4091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3979G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gly1327Ser",
        "hgvsWellDefined": "NP_001317507.1:p.Gly1327Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}