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          "allele": "G",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_001374798.1:c.208C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361727.1:p.Arg70Gly",
        "hgvsWellDefined": "NP_001361727.1:p.Arg70Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693368"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829588104",
      "coordinates": [
        {
          "allele": "G",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023657",
      "geneNCBI_id": 10020,
      "geneSymbol": "GNE",
      "hgvs": [
        "NM_005476.7:c.385C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005467.1:p.Arg129Gly",
        "hgvsWellDefined": "NP_005467.1:p.Arg129Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642385.2:c.385C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005476.7:c.385C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494141.2:p.Arg129Gly"
          },
          "RefSeq": {
            "hgvs": "NP_005467.1:p.Arg129Gly"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}