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          "referenceAllele": "A",
          "start": 915
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      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "XR_948291.2:n.916A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829418985",
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "A",
          "start": 837
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      ],
      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
        "NM_003060.4:c.575A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003051.1:p.Asn192Ser",
        "hgvsWellDefined": "NP_003051.1:p.Asn192Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695718",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_003060.4:c.575A>G"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245407.3:p.Asn192Ser"
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            "hgvs": "NP_003051.1:p.Asn192Ser"
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    {
      "@id": "http://reg.genome.network/allele/PA2580195321",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN010969",
      "geneNCBI_id": 6584,
      "geneSymbol": "SLC22A5",
      "hgvs": [
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        "hgvs": "NP_001295051.1:p.Asn216Ser",
        "hgvsWellDefined": "NP_001295051.1:p.Asn216Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS717230"
    }
  ],
  "type": "nucleotide"
}