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      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.6:c.2159del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Cys720LeufsTer20",
        "hgvsWellDefined": "NP_000043.4:p.[Cys720_Trp729delinsLeu;Phe731Leu;Ile733_Lys737delinsSerPheSerGlu;Leu739_Lys742delinsGlyThrSer;Ala744_Leu749delinsPheArgLeuIleLysHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006117"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2360,
          "referenceAllele": "G",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.1:c.2159del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:p.Cys720LeufsTer15",
        "hgvsWellDefined": "NP_001269153.1:p.[Cys720_Gly725delinsLeuTyrLeuTyrArgAla;Thr727_Ala730delinsHisGlnArg;Ala732_Lys733del;Ile735_Leu737del;Ala739_Asp748del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021822"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "endIntronDirection": "-",
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          "referenceAllele": "G",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 19739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.1:n.322-19739del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053210"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2323,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.7:c.2159del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Cys720LeufsTer20",
        "hgvsWellDefined": "NP_000043.4:p.[Cys720_Trp729delinsLeu;Phe731Leu;Ile733_Lys737delinsSerPheSerGlu;Leu739_Lys742delinsGlyThrSer;Ala744_Leu749delinsPheArgLeuIleLysHis]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341514.11:c.2159del"
          },
          "RefSeq": {
            "hgvs": "NM_000052.7:c.2159del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345728.6:p.Cys720LeufsTer20"
          },
          "RefSeq": {
            "hgvs": "NP_000043.4:p.Cys720LeufsTer20"
          }
        }
      }
    },
    {
      "coordinates": [
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS702930"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2323,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.2:c.2159del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:p.Cys720LeufsTer15",
        "hgvsWellDefined": "NP_001269153.1:p.[Cys720_Gly725delinsLeuTyrLeuTyrArgAla;Thr727_Ala730delinsHisGlnArg;Ala732_Lys733del;Ile735_Leu737del;Ala739_Asp748del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715769"
    }
  ],
  "type": "nucleotide"
}