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        "hgvs": "NP_001157751.1:p.Arg93His",
        "hgvsWellDefined": "NP_001157751.1:p.Arg93His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS663841"
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      "@id": "http://reg.genome.network/allele/PA2825972582",
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
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      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001164280.2:c.497G>A"
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      "proteinEffect": {
        "hgvs": "NP_001157752.1:p.Arg166His",
        "hgvsWellDefined": "NP_001157752.1:p.Arg166His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS663842"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829335109",
      "coordinates": [
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          "allele": "A",
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      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
        "NM_001467.6:c.497G>A"
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      "proteinEffect": {
        "hgvs": "NP_001458.1:p.Arg166His",
        "hgvsWellDefined": "NP_001458.1:p.Arg166His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS665005"
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    {
      "@id": "http://reg.genome.network/allele/PA323756",
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN004061",
      "geneNCBI_id": 2542,
      "geneSymbol": "SLC37A4",
      "hgvs": [
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        "hgvsWellDefined": "NP_001157749.1:p.Arg166His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS713070",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642844.3:c.497G>A"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493469.1:p.Arg166His"
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  ],
  "type": "nucleotide"
}