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      "geneSymbol": "DDHD1",
      "hgvs": [
        "NM_001160148.2:c.2522-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153620.1:n.2522-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678127",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673822.2:c.2522-8C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001160148.2:c.2522-8C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000500986.2:n.2522-8C>G"
          },
          "RefSeq": {
            "hgvs": "NP_001153620.1:n.2522-8C>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2662,
          "endIntronDirection": "-",
          "endIntronOffset": 7,
          "referenceAllele": "C",
          "start": 2662,
          "startIntronDirection": "-",
          "startIntronOffset": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019714",
      "geneNCBI_id": 80821,
      "geneSymbol": "DDHD1",
      "hgvs": [
        "NM_030637.3:c.2438-8C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_085140.2:n.2438-8C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698862"
    }
  ],
  "type": "nucleotide"
}