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      "@id": "http://reg.genome.network/allele/PA916017007",
      "coordinates": [
        {
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          "referenceAllele": "G",
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      "gene": "http://reg.genome.network/gene/GN019706",
      "geneNCBI_id": 54507,
      "geneSymbol": "ADAMTSL4",
      "hgvs": [
        "NM_001288608.2:c.2663G>A"
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      "proteinEffect": {
        "hgvs": "NP_001275537.1:p.Arg888His",
        "hgvsWellDefined": "NP_001275537.1:p.Arg888His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS716454"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828793157",
      "coordinates": [
        {
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          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN019706",
      "geneNCBI_id": 54507,
      "geneSymbol": "ADAMTSL4",
      "hgvs": [
        "NM_001378596.1:c.2594G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365525.1:p.Arg865His",
        "hgvsWellDefined": "NP_001365525.1:p.Arg865His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS721799"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645386780",
      "coordinates": [
        {
          "allele": "A",
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      ],
      "gene": "http://reg.genome.network/gene/GN019706",
      "geneNCBI_id": 54507,
      "geneSymbol": "ADAMTSL4",
      "hgvs": [
        "NM_019032.6:c.2594G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_061905.2:p.Arg865His",
        "hgvsWellDefined": "NP_061905.2:p.Arg865His"
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      "referenceSequence": "http://reg.genome.network/refseq/RS728384",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000271643.9:c.2594G>A"
          },
          "RefSeq": {
            "hgvs": "NM_019032.6:c.2594G>A"
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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000271643.4:p.Arg865His"
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          "RefSeq": {
            "hgvs": "NP_061905.2:p.Arg865His"
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  ],
  "type": "nucleotide"
}