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      "geneSymbol": "EVC",
      "hgvs": [
        "XR_924926.2:n.2454G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS607884"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580531004",
      "coordinates": [
        {
          "allele": "T",
          "end": 2454,
          "referenceAllele": "G",
          "start": 2453
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      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
        "NM_153717.3:c.2274G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_714928.1:p.Lys758Asn",
        "hgvsWellDefined": "NP_714928.1:p.Lys758Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672570",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264956.11:c.2274G>T"
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          "RefSeq": {
            "hgvs": "NM_153717.3:c.2274G>T"
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        "protein": {
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            "hgvs": "ENSP00000264956.6:p.Lys758Asn"
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            "hgvs": "NP_714928.1:p.Lys758Asn"
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        }
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    },
    {
      "@id": "http://reg.genome.network/allele/PA2826909887",
      "coordinates": [
        {
          "allele": "T",
          "end": 2454,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN003497",
      "geneNCBI_id": 2121,
      "geneSymbol": "EVC",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001293019.1:p.Lys758Asn",
        "hgvsWellDefined": "NP_001293019.1:p.Lys758Asn"
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      "referenceSequence": "http://reg.genome.network/refseq/RS683849"
    }
  ],
  "type": "nucleotide"
}