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      "referenceSequence": "http://reg.genome.network/refseq/RS567393"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4246,
          "referenceAllele": "CGCC",
          "start": 4242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "XR_001746223.1:n.4243_4246del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594577"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 4165,
          "referenceAllele": "CGCC",
          "start": 4161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000029",
      "geneNCBI_id": 19,
      "geneSymbol": "ABCA1",
      "hgvs": [
        "NM_005502.4:c.3849_3852del"
      ],
      "proteinEffect": {
        "hgvs": "NP_005493.2:p.Pro1284SerfsTer14",
        "hgvsWellDefined": "NP_005493.2:p.[Pro1284_Asp1295del;Asp1297_Asp1306delinsLeuLysMetMet;Ser1309_Gly1310delinsIleGln;Asp1312_Lys1314delinsIleLeuThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666998",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374736.8:c.3849_3852del"
          },
          "RefSeq": {
            "hgvs": "NM_005502.4:c.3849_3852del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363868.3:p.Pro1284SerfsTer14"
          },
          "RefSeq": {
            "hgvs": "NP_005493.2:p.Pro1284SerfsTer14"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}