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      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
      "geneSymbol": "FGFR3",
      "hgvs": [
        "NR_148971.2:n.2380A>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS704898"
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    {
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      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN003690",
      "geneNCBI_id": 2261,
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      "hgvs": [
        "NM_000142.5:c.1954A>G"
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        "hgvsWellDefined": "NP_000133.1:p.Thr652Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS710802",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS713038"
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    {
      "@id": "http://reg.genome.network/allele/PA2830004925",
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      "gene": "http://reg.genome.network/gene/GN003690",
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      "geneSymbol": "FGFR3",
      "hgvs": [
        "NM_022965.4:c.1618A>G"
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        "hgvsWellDefined": "NP_075254.1:p.Thr540Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728610"
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  "type": "nucleotide"
}