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        "hgvsWellDefined": "XP_011514056.1:p.[Val658_Glu662delinsTyr;Gly664_Ala666del;Pro669Ser;Ile671_Thr679delinsGluArgArgTyrCys;Gln681del;Arg683_Ser687delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2285,
          "referenceAllele": "G",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.2215del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Val739TyrfsTer16",
        "hgvsWellDefined": "NP_000483.3:p.[Val739_Glu743delinsTyr;Gly745_Ala747del;Pro750Ser;Ile752_Thr760delinsGluArgArgTyrCys;Gln762del;Arg764_Ser768delinsSerAla]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.2215del"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.2215del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Val739TyrfsTer16"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Val739TyrfsTer16"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}