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      "@id": "http://reg.genome.network/allele/PA2825669956",
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
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      ],
      "gene": "http://reg.genome.network/gene/GN015578",
      "geneNCBI_id": 85021,
      "geneSymbol": "REPS1",
      "hgvs": [
        "NM_001128617.3:c.338C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001122089.1:p.Ala113Glu",
        "hgvsWellDefined": "NP_001122089.1:p.Ala113Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712259"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826727315",
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
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      ],
      "gene": "http://reg.genome.network/gene/GN015578",
      "geneNCBI_id": 85021,
      "geneSymbol": "REPS1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001273540.1:p.Ala113Glu",
        "hgvsWellDefined": "NP_001273540.1:p.Ala113Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS716239",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_001286611.2:c.338C>A"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000392065.2:p.Ala113Glu"
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            "hgvs": "NP_001273540.1:p.Ala113Glu"
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    {
      "@id": "http://reg.genome.network/allele/PA2826727422",
      "coordinates": [
        {
          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN015578",
      "geneNCBI_id": 85021,
      "geneSymbol": "REPS1",
      "hgvs": [
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        "hgvsWellDefined": "NP_001273541.1:p.Ala113Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS716240"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658816410",
      "coordinates": [
        {
          "allele": "A",
          "end": 909,
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      ],
      "gene": "http://reg.genome.network/gene/GN015578",
      "geneNCBI_id": 85021,
      "geneSymbol": "REPS1",
      "hgvs": [
        "NM_031922.5:c.338C>A"
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      "proteinEffect": {
        "hgvs": "NP_114128.3:p.Ala113Glu",
        "hgvsWellDefined": "NP_114128.3:p.Ala113Glu"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728783"
    }
  ],
  "type": "nucleotide"
}