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          "referenceAllele": "C",
          "start": 2820
        }
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.2182C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Arg728Gly",
        "hgvsWellDefined": "XP_024305105.1:p.Arg728Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916013867",
      "coordinates": [
        {
          "allele": "G",
          "end": 2771,
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      ],
      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.2182C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055178.3:p.Arg728Gly",
        "hgvsWellDefined": "NP_055178.3:p.Arg728Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.2182C>G"
          },
          "RefSeq": {
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        "protein": {
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    {
      "@id": "http://reg.genome.network/allele/PA2826576339",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
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        "hgvs": "NP_001264984.1:p.Arg581Gly",
        "hgvsWellDefined": "NP_001264984.1:p.Arg581Gly"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
    }
  ],
  "type": "nucleotide"
}