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      "referenceSequence": "http://reg.genome.network/refseq/RS695630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307102.10:c.1177G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002755.4:c.1177G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302486.5:p.Val393Ile"
          },
          "RefSeq": {
            "hgvs": "NP_002746.1:p.Val393Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 457,
          "referenceAllele": "C",
          "start": 456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015484",
      "geneNCBI_id": 10302,
      "geneSymbol": "SNAPC5",
      "hgvs": [
        "NM_006049.4:c.*129C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006040.1:n.*129C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 595,
          "referenceAllele": "C",
          "start": 594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015484",
      "geneNCBI_id": 10302,
      "geneSymbol": "SNAPC5",
      "hgvs": [
        "NR_138061.2:n.595C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704001"
    }
  ],
  "type": "nucleotide"
}