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        "XM_024449337.1:c.83C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Ser28Phe",
        "hgvsWellDefined": "XP_024305105.1:p.Ser28Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658808483",
      "coordinates": [
        {
          "allele": "T",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.83C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Ser28Phe",
        "hgvsWellDefined": "NP_055178.3:p.Ser28Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.83C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014363.6:c.83C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Ser28Phe"
          },
          "RefSeq": {
            "hgvs": "NP_055178.3:p.Ser28Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "referenceAllele": "C",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_001278055.2:c.-271C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264984.1:n.-271C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}