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      "referenceSequence": "http://reg.genome.network/refseq/RS716844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018536",
      "geneNCBI_id": 113510,
      "geneSymbol": "HELQ",
      "hgvs": [
        "NM_001297759.2:c.916G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001284688.2:p.Val306Leu",
        "hgvsWellDefined": "NP_001284688.2:p.Val306Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069873007",
      "coordinates": [
        {
          "allele": "C",
          "end": 1046,
          "referenceAllele": "G",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018536",
      "geneNCBI_id": 113510,
      "geneSymbol": "HELQ",
      "hgvs": [
        "NM_133636.5:c.916G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_598375.3:p.Val306Leu",
        "hgvsWellDefined": "NP_598375.3:p.Val306Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729117",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000295488.8:c.916G>C"
          },
          "RefSeq": {
            "hgvs": "NM_133636.5:c.916G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000295488.3:p.Val306Leu"
          },
          "RefSeq": {
            "hgvs": "NP_598375.3:p.Val306Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}