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      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201383.3:c.1828-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958785.1:n.1828-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701536"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1951,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "C",
          "start": 1951,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.1816-7C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:n.1816-7C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.1816-7C>G"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.1816-7C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:n.1816-7C>G"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:n.1816-7C>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}