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      "referenceSequence": "http://reg.genome.network/refseq/RS609325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3708,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3708,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022986",
      "geneNCBI_id": 85301,
      "geneSymbol": "COL27A1",
      "hgvs": [
        "NM_032888.4:c.3294+1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_116277.2:n.3294+1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671452",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356083.8:c.3294+1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_032888.4:c.3294+1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000348385.3:n.3294+1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_116277.2:n.3294+1G>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}