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      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.4133G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Trp1378Ter",
        "hgvsWellDefined": "XP_016876116.1:p.Trp1378_Ile1433delinsArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825039029",
      "coordinates": [
        {
          "allele": "A",
          "end": 4342,
          "referenceAllele": "G",
          "start": 4341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.4229G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Trp1410Ter",
        "hgvsWellDefined": "NP_000044.2:p.Trp1410_Ile1465delinsArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.4229G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.4229G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Trp1410Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Trp1410Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280354",
      "coordinates": [
        {
          "allele": "A",
          "end": 3721,
          "referenceAllele": "G",
          "start": 3720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.3608G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Trp1203Ter",
        "hgvsWellDefined": "NP_001005918.1:p.Trp1203_Ile1258delinsArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330573",
      "coordinates": [
        {
          "allele": "A",
          "end": 4090,
          "referenceAllele": "G",
          "start": 4089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3977G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Trp1326Ter",
        "hgvsWellDefined": "NP_001317508.1:p.Trp1326_Ile1381delinsArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318672",
      "coordinates": [
        {
          "allele": "A",
          "end": 4009,
          "referenceAllele": "G",
          "start": 4008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3896G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Trp1299Ter",
        "hgvsWellDefined": "NP_001230111.1:p.Trp1299_Ile1354delinsArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327476",
      "coordinates": [
        {
          "allele": "A",
          "end": 4108,
          "referenceAllele": "G",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3995G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Trp1332Ter",
        "hgvsWellDefined": "NP_001317507.1:p.Trp1332_Ile1387delinsArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}