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        "hgvsWellDefined": "XP_024305105.1:p.Ile200Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829763567",
      "coordinates": [
        {
          "allele": "G",
          "end": 1187,
          "referenceAllele": "A",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.598A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Ile200Val",
        "hgvsWellDefined": "NP_055178.3:p.Ile200Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.598A>G"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.598A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Ile200Val"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Ile200Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139699844",
      "coordinates": [
        {
          "allele": "G",
          "end": 647,
          "referenceAllele": "A",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.157A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:p.Ile53Val",
        "hgvsWellDefined": "NP_001264984.1:p.Ile53Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}