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    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "A",
          "start": 710
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      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "XM_011524751.2:c.607A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523053.1:p.Thr203Ala",
        "hgvsWellDefined": "XP_011523053.1:p.Thr203Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS547579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825086733",
      "coordinates": [
        {
          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_000213.5:c.502A>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_000204.3:p.Thr168Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000200181.8:c.502A>G"
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          "RefSeq": {
            "hgvs": "NM_000213.5:c.502A>G"
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        },
        "protein": {
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            "hgvs": "NP_000204.3:p.Thr168Ala"
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    {
      "@id": "http://reg.genome.network/allele/PA2825275633",
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      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
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        "hgvsWellDefined": "NP_001005731.1:p.Thr168Ala"
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      "referenceSequence": "http://reg.genome.network/refseq/RS675206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573201573",
      "coordinates": [
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          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NM_001321123.2:c.502A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308052.1:p.Thr168Ala",
        "hgvsWellDefined": "NP_001308052.1:p.Thr168Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685213"
    }
  ],
  "type": "nucleotide"
}