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        "hgvsWellDefined": "XP_005274715.1:p.[Asn126Asp;Arg228Leu]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS068030"
    },
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      "coordinates": [
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          "referenceAllele": "A",
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        {
          "allele": "T",
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "XM_011531132.1:c.[466A>G;773G>T]"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529434.1:p.[Asn156Asp;Arg258Leu]",
        "hgvsWellDefined": "XP_011529434.1:p.[Asn156Asp;Arg258Leu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098173"
    },
    {
      "coordinates": [
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        {
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN004057",
      "geneNCBI_id": 2539,
      "geneSymbol": "G6PD",
      "hgvs": [
        "NM_001360016.2:c.[376A>G;680G>T]"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001346945.1:p.[Asn126Asp;Arg227Leu]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS522989",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000393562.10:c.[376A>G;680G>T]"
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          "RefSeq": {
            "hgvs": "NM_001360016.2:c.[376A>G;680G>T]"
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        "protein": {
          "Ensembl": {
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            "hgvs": "NP_001346945.1:p.[Asn126Asp;Arg227Leu]"
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      "coordinates": [
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      "hgvs": [
        "NM_001042351.3:c.[376A>G;680G>T]"
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        "hgvsWellDefined": "NP_001035810.1:p.[Asn126Asp;Arg227Leu]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS676000"
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  ],
  "type": "nucleotide"
}