{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA250071444",
  "communityStandardTitle": [
    "NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3015075[alleleid]",
        "alleleId": 3015075,
        "preferredName": "NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2846900",
        "RCV": [
          "RCV003608865"
        ],
        "variationId": 2846900
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.52508935C>T?assembly=hg19",
        "id": "chr13:g.52508935C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.51934799C>T?assembly=hg38",
        "id": "chr13:g.51934799C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780486131",
        "rs": 780486131
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-51934799-C-T?dataset=gnomad_r4",
        "id": "13-51934799-C-T",
        "variant": "13:51934799 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51934799,
          "referenceAllele": "C",
          "start": 51934798
        }
      ],
      "hgvs": [
        "NC_000013.11:g.51934799C>T",
        "CM000675.2:g.51934799C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 52508935,
          "referenceAllele": "C",
          "start": 52508934
        }
      ],
      "hgvs": [
        "NC_000013.10:g.52508935C>T",
        "CM000675.1:g.52508935C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "T",
          "end": 51406936,
          "referenceAllele": "C",
          "start": 51406935
        }
      ],
      "hgvs": [
        "NC_000013.9:g.51406936C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81696,
          "referenceAllele": "G",
          "start": 81695
        }
      ],
      "hgvs": [
        "NG_008806.1:g.81696G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001225"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4110,
          "referenceAllele": "G",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.2:c.*2005G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489512.2:n.*2005G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4892,
          "referenceAllele": "G",
          "start": 4891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673864.2:c.*3099G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501045.2:n.*3099G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914449"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3847,
          "referenceAllele": "G",
          "start": 3846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.2:c.3734G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.2:p.Trp1245Ter",
        "hgvsWellDefined": "ENSP00000500964.2:p.Trp1245_Ile1258delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4468,
          "referenceAllele": "G",
          "start": 4467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.10:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.5:p.Trp1452Ter",
        "hgvsWellDefined": "ENSP00000242839.5:p.Trp1452_Ile1465delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741157",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.4355G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.4355G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Trp1452Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Trp1452Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3891,
          "referenceAllele": "G",
          "start": 3890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.9:c.3734G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Trp1245Ter",
        "hgvsWellDefined": "ENSP00000342559.5:p.Trp1245_Ile1258delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748204"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4022,
          "referenceAllele": "G",
          "start": 4021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.6:c.4022G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Trp1341Ter",
        "hgvsWellDefined": "ENSP00000383217.3:p.Trp1341_Ile1354delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4356,
          "referenceAllele": "G",
          "start": 4355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.7:c.4103G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.3:p.Trp1368Ter",
        "hgvsWellDefined": "ENSP00000416738.3:p.Trp1368_Ile1381delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1678,
          "referenceAllele": "G",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673696.1:n.1678G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773796"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4195,
          "referenceAllele": "G",
          "start": 4194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673772.1:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501168.1:p.Trp1374Ter",
        "hgvsWellDefined": "ENSP00000501168.1:p.Trp1374_Ile1387delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773858"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4494,
          "referenceAllele": "G",
          "start": 4493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673867.1:n.4494G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1221,
          "referenceAllele": "G",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000673923.1:n.1221G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3290,
          "referenceAllele": "G",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000674147.1:c.3290G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500964.1:p.Trp1097Ter",
        "hgvsWellDefined": "ENSP00000500964.1:p.Trp1097_Ile1110delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4512,
          "referenceAllele": "G",
          "start": 4511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000242839.8:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000242839.4:p.Trp1452Ter",
        "hgvsWellDefined": "ENSP00000242839.4:p.Trp1452_Ile1465delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3736,
          "referenceAllele": "G",
          "start": 3735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000344297.8:c.3734G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342559.5:p.Trp1245Ter",
        "hgvsWellDefined": "ENSP00000342559.5:p.Trp1245_Ile1258delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261940"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400366.5:c.4022G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383217.3:p.Trp1341Ter",
        "hgvsWellDefined": "ENSP00000383217.3:p.Trp1341_Ile1354delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3139,
          "referenceAllele": "G",
          "start": 3138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000400370.8:c.3065G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383221.3:p.Trp1022Ter",
        "hgvsWellDefined": "ENSP00000383221.3:p.Trp1022_Ile1035delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4234,
          "referenceAllele": "G",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000418097.7:c.4160G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393343.2:p.Trp1387Ter",
        "hgvsWellDefined": "ENSP00000393343.2:p.Trp1387_Ile1400delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4278,
          "referenceAllele": "G",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000448424.6:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416738.2:p.Trp1374Ter",
        "hgvsWellDefined": "ENSP00000416738.2:p.Trp1374_Ile1387delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2133,
          "referenceAllele": "G",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634296.1:c.2133G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4213,
          "referenceAllele": "G",
          "start": 4212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634308.1:c.*1456G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489234.1:n.*1456G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5099,
          "referenceAllele": "G",
          "start": 5098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634620.1:n.5099G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3700,
          "referenceAllele": "G",
          "start": 3699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634810.1:n.3700G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407945"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4285,
          "referenceAllele": "G",
          "start": 4284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "ENST00000634844.1:c.4211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489398.1:p.Trp1404Ter",
        "hgvsWellDefined": "ENSP00000489398.1:p.Trp1404_Ile1417delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039077",
      "coordinates": [
        {
          "allele": "A",
          "end": 4512,
          "referenceAllele": "G",
          "start": 4511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.3:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Trp1452Ter",
        "hgvsWellDefined": "NP_000044.2:p.Trp1452_Ile1465delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006118"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280415",
      "coordinates": [
        {
          "allele": "A",
          "end": 3891,
          "referenceAllele": "G",
          "start": 3890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.2:c.3734G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Trp1245Ter",
        "hgvsWellDefined": "NP_001005918.1:p.Trp1245_Ile1258delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007800"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318733",
      "coordinates": [
        {
          "allele": "A",
          "end": 4179,
          "referenceAllele": "G",
          "start": 4178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.1:c.4022G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Trp1341Ter",
        "hgvsWellDefined": "NP_001230111.1:p.Trp1341_Ile1354delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4417,
          "referenceAllele": "G",
          "start": 4416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266423.2:c.4259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266480.1:p.Trp1420Ter",
        "hgvsWellDefined": "XP_005266480.1:p.Trp1420_Ile1433delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4509,
          "referenceAllele": "G",
          "start": 4508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.3:c.4259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Trp1420Ter",
        "hgvsWellDefined": "XP_005266481.1:p.Trp1420_Ile1433delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4340,
          "referenceAllele": "G",
          "start": 4339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266427.2:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266484.1:p.Trp1374Ter",
        "hgvsWellDefined": "XP_005266484.1:p.Trp1374_Ile1387delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065051"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4322,
          "referenceAllele": "G",
          "start": 4321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266428.1:c.4103G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266485.1:p.Trp1368Ter",
        "hgvsWellDefined": "XP_005266485.1:p.Trp1368_Ile1381delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4489,
          "referenceAllele": "G",
          "start": 4488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.3:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Trp1452Ter",
        "hgvsWellDefined": "XP_005266487.1:p.Trp1452_Ile1465delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4334,
          "referenceAllele": "G",
          "start": 4333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.2:c.4319G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Trp1440Ter",
        "hgvsWellDefined": "XP_005266488.1:p.Trp1440_Ile1453delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4088,
          "referenceAllele": "G",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266432.2:c.3869G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266489.1:p.Trp1290Ter",
        "hgvsWellDefined": "XP_005266489.1:p.Trp1290_Ile1303delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065055"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4349,
          "referenceAllele": "G",
          "start": 4348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.2:c.4259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Trp1420Ter",
        "hgvsWellDefined": "XP_006719900.1:p.Trp1420_Ile1433delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2307,
          "referenceAllele": "G",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719838.1:c.2171G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719901.1:p.Trp724Ter",
        "hgvsWellDefined": "XP_006719901.1:p.Trp724_Ile737delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2124,
          "referenceAllele": "G",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719839.1:c.1988G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719902.1:p.Trp663Ter",
        "hgvsWellDefined": "XP_006719902.1:p.Trp663_Ile676delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4361,
          "referenceAllele": "G",
          "start": 4360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.1:c.4259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Trp1420Ter",
        "hgvsWellDefined": "XP_011533419.1:p.Trp1420_Ile1433delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4439,
          "referenceAllele": "G",
          "start": 4438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535118.1:c.4220G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533420.1:p.Trp1407Ter",
        "hgvsWellDefined": "XP_011533420.1:p.Trp1407_Ile1420delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4391,
          "referenceAllele": "G",
          "start": 4390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535119.1:c.4172G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533421.1:p.Trp1391Ter",
        "hgvsWellDefined": "XP_011533421.1:p.Trp1391_Ile1404delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4160,
          "referenceAllele": "G",
          "start": 4159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535120.1:c.3941G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533422.1:p.Trp1314Ter",
        "hgvsWellDefined": "XP_011533422.1:p.Trp1314_Ile1327delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4061,
          "referenceAllele": "G",
          "start": 4060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535121.1:c.3842G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533423.1:p.Trp1281Ter",
        "hgvsWellDefined": "XP_011533423.1:p.Trp1281_Ile1294delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3136,
          "referenceAllele": "G",
          "start": 3135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535122.1:c.3023G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533424.1:p.Trp1008Ter",
        "hgvsWellDefined": "XP_011533424.1:p.Trp1008_Ile1021delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS102131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4574,
          "referenceAllele": "G",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941601.1:n.4574G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4574,
          "referenceAllele": "G",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941602.1:n.4574G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4574,
          "referenceAllele": "G",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941603.1:n.4574G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4574,
          "referenceAllele": "G",
          "start": 4573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XR_941604.1:n.4574G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS136197"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327658",
      "coordinates": [
        {
          "allele": "A",
          "end": 4278,
          "referenceAllele": "G",
          "start": 4277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.1:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Trp1374Ter",
        "hgvsWellDefined": "NP_001317507.1:p.Trp1374_Ile1387delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330692",
      "coordinates": [
        {
          "allele": "A",
          "end": 4260,
          "referenceAllele": "G",
          "start": 4259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.1:c.4103G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Trp1368Ter",
        "hgvsWellDefined": "NP_001317508.1:p.Trp1368_Ile1381delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5038,
          "referenceAllele": "G",
          "start": 5037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266424.4:c.4259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266481.1:p.Trp1420Ter",
        "hgvsWellDefined": "XP_005266481.1:p.Trp1420_Ile1433delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4520,
          "referenceAllele": "G",
          "start": 4519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266430.4:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266487.1:p.Trp1452Ter",
        "hgvsWellDefined": "XP_005266487.1:p.Trp1452_Ile1465delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7404,
          "referenceAllele": "G",
          "start": 7403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_005266431.4:c.4319G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005266488.1:p.Trp1440Ter",
        "hgvsWellDefined": "XP_005266488.1:p.Trp1440_Ile1453delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536238"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4666,
          "referenceAllele": "G",
          "start": 4665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_006719837.3:c.4259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719900.1:p.Trp1420Ter",
        "hgvsWellDefined": "XP_006719900.1:p.Trp1420_Ile1433delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5601,
          "referenceAllele": "G",
          "start": 5600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.4259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Trp1420Ter",
        "hgvsWellDefined": "XP_011533419.1:p.Trp1420_Ile1433delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4416,
          "referenceAllele": "G",
          "start": 4415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.4259G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Trp1420Ter",
        "hgvsWellDefined": "XP_016876116.1:p.Trp1420_Ile1433delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039077",
      "coordinates": [
        {
          "allele": "A",
          "end": 4468,
          "referenceAllele": "G",
          "start": 4467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.4355G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Trp1452Ter",
        "hgvsWellDefined": "NP_000044.2:p.Trp1452_Ile1465delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.4355G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.4355G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Trp1452Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Trp1452Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280415",
      "coordinates": [
        {
          "allele": "A",
          "end": 3847,
          "referenceAllele": "G",
          "start": 3846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.3734G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Trp1245Ter",
        "hgvsWellDefined": "NP_001005918.1:p.Trp1245_Ile1258delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330692",
      "coordinates": [
        {
          "allele": "A",
          "end": 4216,
          "referenceAllele": "G",
          "start": 4215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.4103G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Trp1368Ter",
        "hgvsWellDefined": "NP_001317508.1:p.Trp1368_Ile1381delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318733",
      "coordinates": [
        {
          "allele": "A",
          "end": 4135,
          "referenceAllele": "G",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.4022G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Trp1341Ter",
        "hgvsWellDefined": "NP_001230111.1:p.Trp1341_Ile1354delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327658",
      "coordinates": [
        {
          "allele": "A",
          "end": 4234,
          "referenceAllele": "G",
          "start": 4233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.4121G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Trp1374Ter",
        "hgvsWellDefined": "NP_001317507.1:p.Trp1374_Ile1387delinsSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}