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            "hgvs": "ENSP00000500115.1:p.Ala56Glu"
          },
          "RefSeq": {
            "hgvs": "NP_068374.1:p.Ala56Glu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830351086",
      "coordinates": [
        {
          "allele": "A",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NM_172337.3:c.143C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_758840.1:p.Ala48Glu",
        "hgvsWellDefined": "NP_758840.1:p.Ala48Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 384,
          "endIntronDirection": "+",
          "endIntronOffset": 1066,
          "referenceAllele": "C",
          "start": 384,
          "startIntronDirection": "+",
          "startIntronOffset": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073034.2:n.384+1066C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 308,
          "endIntronDirection": "+",
          "endIntronOffset": 1066,
          "referenceAllele": "C",
          "start": 308,
          "startIntronDirection": "+",
          "startIntronOffset": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008522",
      "geneNCBI_id": 5015,
      "geneSymbol": "OTX2",
      "hgvs": [
        "NR_073036.2:n.308+1066C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702648"
    }
  ],
  "type": "nucleotide"
}