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        "hgvs": "NP_001275918.1:n.1206+19430C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1898,
          "endIntronDirection": "+",
          "endIntronOffset": 19430,
          "referenceAllele": "C",
          "start": 1898,
          "startIntronDirection": "+",
          "startIntronOffset": 19429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NM_016341.4:c.1206+19430C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057425.3:n.1206+19430C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697711",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371380.8:c.1206+19430C="
          },
          "RefSeq": {
            "hgvs": "NM_016341.4:c.1206+19430C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360431.2:n.1206+19430C="
          },
          "RefSeq": {
            "hgvs": "NP_057425.3:n.1206+19430C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}