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      "geneSymbol": "ABCC6",
      "hgvs": [
        "NM_001171.6:c.3364del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162.5:p.Ser1122LeufsTer?",
        "hgvsWellDefined": "NP_001162.5:p.[Ser1121_Ser1122insLeu;Val1123_Phe1131delinsAlaProThrTrpLeuArgArgSerArgAlaAla;Gly1133Trp;Thr1135_Phe1140delinsGlyHisSerGluPro;Thr1142_Ala1144delinsPro;Phe1146_Asn1151delinsLeuTrpLeuArgThrMet]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713353",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000205557.12:c.3364del"
          },
          "RefSeq": {
            "hgvs": "NM_001171.6:c.3364del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000205557.7:p.Ser1122LeufsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001162.5:p.Ser1122LeufsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}