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      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
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      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.5:c.331C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000204.3:p.Arg111Trp",
        "hgvsWellDefined": "NP_000204.3:p.Arg111Trp"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000200181.8:c.331C>T"
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          "RefSeq": {
            "hgvs": "NM_000213.5:c.331C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000200181.3:p.Arg111Trp"
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          "RefSeq": {
            "hgvs": "NP_000204.3:p.Arg111Trp"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825275614",
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
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      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001005731.3:c.331C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005731.1:p.Arg111Trp",
        "hgvsWellDefined": "NP_001005731.1:p.Arg111Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741857728",
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
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      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001321123.2:c.331C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308052.1:p.Arg111Trp",
        "hgvsWellDefined": "NP_001308052.1:p.Arg111Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685213"
    }
  ],
  "type": "nucleotide"
}