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      "@id": "http://reg.genome.network/allele/PA2825374686",
      "coordinates": [
        {
          "allele": "G",
          "end": 1167,
          "referenceAllele": "A",
          "start": 1166
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      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001033859.3:c.1120A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001029031.1:p.Met374Val",
        "hgvsWellDefined": "NP_001029031.1:p.Met374Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS711542"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139691390",
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "A",
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      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270447.2:c.1255A>G"
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      "proteinEffect": {
        "hgvs": "NP_001257376.1:p.Met419Val",
        "hgvsWellDefined": "NP_001257376.1:p.Met419Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715163"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826516307",
      "coordinates": [
        {
          "allele": "G",
          "end": 1308,
          "referenceAllele": "A",
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      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NM_001270448.2:c.958A>G"
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      "proteinEffect": {
        "hgvs": "NP_001257377.1:p.Met320Val",
        "hgvsWellDefined": "NP_001257377.1:p.Met320Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS715164"
    }
  ],
  "type": "nucleotide"
}