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      "gene": "http://reg.genome.network/gene/GN015578",
      "geneNCBI_id": 85021,
      "geneSymbol": "REPS1",
      "hgvs": [
        "NM_001286611.2:c.232G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273540.1:p.Val78Leu",
        "hgvsWellDefined": "NP_001273540.1:p.Val78Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716239",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000450536.7:c.232G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001286611.2:c.232G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392065.2:p.Val78Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001273540.1:p.Val78Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826727419",
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015578",
      "geneNCBI_id": 85021,
      "geneSymbol": "REPS1",
      "hgvs": [
        "NM_001286612.2:c.232G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273541.1:p.Val78Leu",
        "hgvsWellDefined": "NP_001273541.1:p.Val78Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658816406",
      "coordinates": [
        {
          "allele": "C",
          "end": 803,
          "referenceAllele": "G",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015578",
      "geneNCBI_id": 85021,
      "geneSymbol": "REPS1",
      "hgvs": [
        "NM_031922.5:c.232G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_114128.3:p.Val78Leu",
        "hgvsWellDefined": "NP_114128.3:p.Val78Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728783"
    }
  ],
  "type": "nucleotide"
}