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      "hgvs": [
        "NM_000275.3:c.1427A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000266.2:p.Asn476Ser",
        "hgvsWellDefined": "NP_000266.2:p.Asn476Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662379",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354638.8:c.1427A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000275.3:c.1427A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346659.3:p.Asn476Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000266.2:p.Asn476Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826857120",
      "coordinates": [
        {
          "allele": "G",
          "end": 1468,
          "referenceAllele": "A",
          "start": 1467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008101",
      "geneNCBI_id": 4948,
      "geneSymbol": "OCA2",
      "hgvs": [
        "NM_001300984.2:c.1355A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001287913.1:p.Asn452Ser",
        "hgvsWellDefined": "NP_001287913.1:p.Asn452Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683292"
    }
  ],
  "type": "nucleotide"
}