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        "hgvs": "XP_016882841.1:p.Arg453="
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          "end": 1374,
          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
        "XM_017027353.1:c.1359G>A"
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      "proteinEffect": {
        "hgvs": "XP_016882842.1:p.Arg453="
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      "referenceSequence": "http://reg.genome.network/refseq/RS577318"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016882843.1:p.Arg453="
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      "referenceSequence": "http://reg.genome.network/refseq/RS577319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825412111",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN006717",
      "geneNCBI_id": 8425,
      "geneSymbol": "LTBP4",
      "hgvs": [
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        "hgvs": "NP_001036010.1:p.Arg375="
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      "referenceSequence": "http://reg.genome.network/refseq/RS676054",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396819.8:c.1125G>A"
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  "type": "nucleotide"
}