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            "hgvs": "ENST00000325542.10:c.46-2A>T"
          },
          "RefSeq": {
            "hgvs": "NM_014679.5:c.46-2A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000317902.5:n.46-2A>T"
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          "RefSeq": {
            "hgvs": "NP_055494.2:n.46-2A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 290,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 290,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243776.2:c.19-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230705.1:n.19-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
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          "referenceAllele": "A",
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          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001243777.2:c.46-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230706.1:n.46-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "endIntronDirection": "-",
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          "referenceAllele": "A",
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          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030794",
      "geneNCBI_id": 9702,
      "geneSymbol": "CEP57",
      "hgvs": [
        "NM_001363604.2:c.-36-2A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350533.1:n.-36-2A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720762"
    }
  ],
  "type": "nucleotide"
}