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      "referenceSequence": "http://reg.genome.network/refseq/RS690325"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "G",
          "start": 2514
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      ],
      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.2:n.2515G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS704898"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825062430",
      "coordinates": [
        {
          "allele": "A",
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      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_000142.5:c.2089G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000133.1:p.Gly697Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS710802",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440486.8:c.2089G>A"
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          "RefSeq": {
            "hgvs": "NM_000142.5:c.2089G>A"
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        "protein": {
          "Ensembl": {
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            "hgvs": "NP_000133.1:p.Gly697Ser"
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    {
      "@id": "http://reg.genome.network/allele/PA2741838823",
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      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_001163213.2:c.2095G>A"
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      "proteinEffect": {
        "hgvs": "NP_001156685.1:p.Gly699Ser",
        "hgvsWellDefined": "NP_001156685.1:p.Gly699Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS713038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830004976",
      "coordinates": [
        {
          "allele": "A",
          "end": 2028,
          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN003690",
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      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.4:c.1753G>A"
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      "proteinEffect": {
        "hgvs": "NP_075254.1:p.Gly585Ser",
        "hgvsWellDefined": "NP_075254.1:p.Gly585Ser"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728610"
    }
  ],
  "type": "nucleotide"
}