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        "hgvsWellDefined": "XP_011514056.1:p.[Asp1121_Pro1124delinsAla;Gly1127Pro;Met1129_Thr1135delinsGly;Tyr1138_Ser1150del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 3675,
          "referenceAllele": "A",
          "start": 3674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.3605del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Asp1202AlafsTer9",
        "hgvsWellDefined": "NP_000483.3:p.[Asp1202_Pro1205delinsAla;Gly1208Pro;Met1210_Thr1216delinsGly;Tyr1219_Ser1231del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.3605del"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.3605del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Asp1202AlafsTer9"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Asp1202AlafsTer9"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}