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          "end": 5410,
          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "XM_024449337.1:c.4771G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305105.1:p.Asp1591His",
        "hgvsWellDefined": "XP_024305105.1:p.Asp1591His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS582894"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741944933",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010519",
      "geneNCBI_id": 26278,
      "geneSymbol": "SACS",
      "hgvs": [
        "NM_014363.6:c.4744G>C"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_055178.3:p.Asp1582His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS668309",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382292.9:c.4744G>C"
          },
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            "hgvs": "NM_014363.6:c.4744G>C"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000371729.3:p.Asp1582His"
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            "hgvs": "NP_055178.3:p.Asp1582His"
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    {
      "@id": "http://reg.genome.network/allele/PA2826576871",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010519",
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      "geneSymbol": "SACS",
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        "hgvs": "NP_001264984.1:p.Asp1435His",
        "hgvsWellDefined": "NP_001264984.1:p.Asp1435His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS681389"
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  ],
  "type": "nucleotide"
}