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          "referenceAllele": "G",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.451G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Val151Met",
        "hgvsWellDefined": "NP_003051.1:p.Val151Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245407.8:c.451G>A"
          },
          "RefSeq": {
            "hgvs": "NM_003060.4:c.451G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Val151Met"
          },
          "RefSeq": {
            "hgvs": "NP_003051.1:p.Val151Met"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916020738",
      "coordinates": [
        {
          "allele": "A",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_001308122.2:c.523G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295051.1:p.Val175Met",
        "hgvsWellDefined": "NP_001295051.1:p.Val175Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}