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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.2513del"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.2513del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Lys838SerfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Lys838SerfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2140,
          "referenceAllele": "A",
          "start": 2139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.2027del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Lys676SerfsTer?",
        "hgvsWellDefined": "NP_001005918.1:p.[Lys676Ser;Pro678_Asp680delinsGlnTrpMet;Val683_Glu692delinsSerTrpLysAlaIleProTrpLeuMet;Leu694_Gly697delinsProSerSerGln;Ala699_Lys705delinsLysProCysGlnSerLeuArgAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2374,
          "referenceAllele": "A",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.2261del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Lys754SerfsTer?",
        "hgvsWellDefined": "NP_001317508.1:p.[Lys754Ser;Pro756_Asp758delinsGlnTrpMet;Val761_Glu770delinsSerTrpLysAlaIleProTrpLeuMet;Leu772_Gly775delinsProSerSerGln;Ala777_Lys783delinsLysProCysGlnSerLeuArgAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2293,
          "referenceAllele": "A",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.2180del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Lys727SerfsTer?",
        "hgvsWellDefined": "NP_001230111.1:p.[Lys727Ser;Pro729_Asp731delinsGlnTrpMet;Val734_Glu743delinsSerTrpLysAlaIleProTrpLeuMet;Leu745_Gly748delinsProSerSerGln;Ala750_Lys756delinsLysProCysGlnSerLeuArgAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2392,
          "referenceAllele": "A",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.2279del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Lys760SerfsTer?",
        "hgvsWellDefined": "NP_001317507.1:p.[Lys760Ser;Pro762_Asp764delinsGlnTrpMet;Val767_Glu776delinsSerTrpLysAlaIleProTrpLeuMet;Leu778_Gly781delinsProSerSerGln;Ala783_Lys789delinsLysProCysGlnSerLeuArgAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}