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          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NM_201384.3:c.1264-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_958786.1:n.1264-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345136.8:c.1264-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201384.3:c.1264-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344848.3:n.1264-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_958786.1:n.1264-1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}