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      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.2:c.377C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:p.Ser126Ter",
        "hgvsWellDefined": "NP_001271245.1:p.Ser126_Ser311delinsGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682055"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580544562",
      "coordinates": [
        {
          "allele": "A",
          "end": 1506,
          "referenceAllele": "C",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.5:c.1172C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Ser391Ter",
        "hgvsWellDefined": "NP_777577.2:p.Ser391_Ser576delinsGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700677"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.2:n.1510C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.2:n.1607C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1361,
          "referenceAllele": "C",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.2:n.1361C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704610"
    }
  ],
  "type": "nucleotide"
}