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        "XR_001736948.1:n.7411+4270C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7941,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "C",
          "start": 7941,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.7780+2C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:n.7780+2C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.7780+2C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.7780+2C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:n.7780+2C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:n.7780+2C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}