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        "XM_017022265.1:c.891del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877754.1:p.Ser297ArgfsTer7",
        "hgvsWellDefined": "XP_016877754.1:p.[Ser297del;Thr299_Val302delinsGlyPro;Thr304del;Glu306_Ala327delinsTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573264"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "XR_001751294.1:n.980del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS598213"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_000275.3:c.867del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Ser289ArgfsTer7",
        "hgvsWellDefined": "NP_000266.2:p.[Ser289del;Thr291_Val294delinsGlyPro;Thr296del;Glu298_Ala319delinsTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.867del"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.867del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Ser289ArgfsTer7"
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Ser289ArgfsTer7"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 980,
          "referenceAllele": "C",
          "start": 979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.867del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Ser289ArgfsTer7",
        "hgvsWellDefined": "NP_001287913.1:p.[Ser289del;Thr291_Val294delinsGlyPro;Thr296del;Glu298_Ala319delinsTyr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}