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      "coordinates": [
        {
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          "referenceAllele": "C",
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      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000422.1:p.Leu51Phe"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NM_000431.4:c.151C>T"
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        "protein": {
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            "hgvs": "NP_000422.1:p.Leu51Phe"
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    {
      "@id": "http://reg.genome.network/allele/PA2825570733",
      "coordinates": [
        {
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.151C>T"
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      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Leu51Phe",
        "hgvsWellDefined": "NP_001107657.1:p.Leu51Phe"
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      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916019147",
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "C",
          "start": 244
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      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.151C>T"
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      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Leu51Phe",
        "hgvsWellDefined": "NP_001288111.1:p.Leu51Phe"
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      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
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  ],
  "type": "nucleotide"
}