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        "XM_011516018.2:c.406G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514320.1:p.Ala136Thr",
        "hgvsWellDefined": "XP_011514320.1:p.Ala136Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2086,
          "referenceAllele": "G",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "XM_017011951.2:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867440.1:p.Ala303Thr",
        "hgvsWellDefined": "XP_016867440.1:p.Ala303Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2086,
          "referenceAllele": "G",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_001127231.3:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120703.1:p.Ala303Thr",
        "hgvsWellDefined": "NP_001120703.1:p.Ala303Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073443386",
      "coordinates": [
        {
          "allele": "A",
          "end": 2086,
          "referenceAllele": "G",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014262",
      "geneNCBI_id": 26053,
      "geneSymbol": "AUTS2",
      "hgvs": [
        "NM_015570.4:c.907G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056385.1:p.Ala303Thr",
        "hgvsWellDefined": "NP_056385.1:p.Ala303Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697572",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342771.10:c.907G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015570.4:c.907G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344087.4:p.Ala303Thr"
          },
          "RefSeq": {
            "hgvs": "NP_056385.1:p.Ala303Thr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}