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        "hgvsWellDefined": "ENSP00000345728.6:p.[Tyr670_Phe678delinsPheLeuTyrSerCysAsnGly;Thr680_Ile693delinsAspAspIleTyrAspGlyTyrGlyProProLeuCys;Leu695_His696del;Met699Pro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261356"
    },
    {
      "coordinates": [
        {
          "allele": "TTCTGTATTCCTGTAATGGGGCTGATGATAT",
          "end": 2209,
          "referenceAllele": "",
          "start": 2209
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      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000343533.9:c.1978_2008dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343026.5:p.Tyr670PhefsTer25",
        "hgvsWellDefined": "ENSP00000343026.5:p.[Tyr670_Phe678delinsPheLeuTyrSerCysAsnGly;Thr680_Ile693delinsAspAspIleTyrAspGlyTyrGlyProProLeuCys;Leu695_His696del;Met699Pro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261784"
    },
    {
      "coordinates": [
        {
          "allele": "TTCTGTATTCCTGTAATGGGGCTGATGATAT",
          "end": 2136,
          "referenceAllele": "",
          "start": 2136
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      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000350425.5:c.*1151_*1181dup"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343678.5:n.*1151_*1181dup"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262680"
    },
    {
      "coordinates": [
        {
          "allele": "TTCTGTATTCCTGTAATGGGGCTGATGATAT",
          "end": 2209,
          "referenceAllele": "",
          "start": 2209
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      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.6:c.1978_2008dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Tyr670PhefsTer25",
        "hgvsWellDefined": "NP_000043.4:p.[Tyr670_Phe678delinsPheLeuTyrSerCysAsnGly;Thr680_Ile693delinsAspAspIleTyrAspGlyTyrGlyProProLeuCys;Leu695_His696del;Met699Pro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006117"
    },
    {
      "coordinates": [
        {
          "allele": "TTCTGTATTCCTGTAATGGGGCTGATGATAT",
          "end": 2209,
          "referenceAllele": "",
          "start": 2209
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      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.1:c.1978_2008dup"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:p.Tyr670PhefsTer25",
        "hgvsWellDefined": "NP_001269153.1:p.[Tyr670_Phe678delinsPheLeuTyrSerCysAsnGly;Thr680_Ile693delinsAspAspIleTyrAspGlyTyrGlyProProLeuCys;Leu695_His696del;Met699Pro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021822"
    },
    {
      "coordinates": [
        {
          "allele": "TTCTGTATTCCTGTAATGGGGCTGATGATAT",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 19889,
          "referenceAllele": "",
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          "startIntronDirection": "-",
          "startIntronOffset": 19889
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      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.1:n.322-19920_322-19890dup"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053210"
    },
    {
      "coordinates": [
        {
          "allele": "TTCTGTATTCCTGTAATGGGGCTGATGATAT",
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          "referenceAllele": "",
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      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
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      "hgvs": [
        "NM_000052.7:c.1978_2008dup"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000043.4:p.[Tyr670_Phe678delinsPheLeuTyrSerCysAsnGly;Thr680_Ile693delinsAspAspIleTyrAspGlyTyrGlyProProLeuCys;Leu695_His696del;Met699Pro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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        "protein": {
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      "geneSymbol": "ATP7A",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS702930"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.2:c.1978_2008dup"
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        "hgvs": "NP_001269153.1:p.Tyr670PhefsTer25",
        "hgvsWellDefined": "NP_001269153.1:p.[Tyr670_Phe678delinsPheLeuTyrSerCysAsnGly;Thr680_Ile693delinsAspAspIleTyrAspGlyTyrGlyProProLeuCys;Leu695_His696del;Met699Pro]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715769"
    }
  ],
  "type": "nucleotide"
}