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      "referenceSequence": "http://reg.genome.network/refseq/RS691217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915976570",
      "coordinates": [
        {
          "allele": "A",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.4:c.487G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.2:p.Ala163Thr",
        "hgvsWellDefined": "NP_006484.2:p.Ala163Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696728",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377453.9:c.487G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006493.4:c.487G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366673.5:p.Ala163Thr"
          },
          "RefSeq": {
            "hgvs": "NP_006484.2:p.Ala163Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}