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      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_001127231.3:c.1605C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120703.1:p.His535="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073935688",
      "coordinates": [
        {
          "allele": "T",
          "end": 2784,
          "referenceAllele": "C",
          "start": 2783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_015570.4:c.1605C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056385.1:p.His535="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697572",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342771.10:c.1605C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015570.4:c.1605C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344087.4:p.His535="
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          "RefSeq": {
            "hgvs": "NP_056385.1:p.His535="
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        }
      }
    }
  ],
  "type": "nucleotide"
}