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        "hgvs": "XP_011541719.1:p.Ala187Val",
        "hgvsWellDefined": "XP_011541719.1:p.Ala187Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
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    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1147
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      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.560C>T"
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      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Ala187Val",
        "hgvsWellDefined": "XP_011541719.1:p.Ala187Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826115675",
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001173.2:p.Ala322Val",
        "hgvsWellDefined": "NP_001173.2:p.Ala322Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409134.8:c.965C>T"
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          "RefSeq": {
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        "protein": {
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    {
      "@id": "http://reg.genome.network/allele/PA2826253373",
      "coordinates": [
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN000877",
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      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001201377.2:c.881C>T"
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        "hgvsWellDefined": "NP_001188306.1:p.Ala294Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
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    {
      "@id": "http://reg.genome.network/allele/PA2499242064",
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "NM_001202404.2:c.965C>T"
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        "hgvs": "NP_001189333.2:p.Ala322Val",
        "hgvsWellDefined": "NP_001189333.2:p.Ala322Val"
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      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
    }
  ],
  "type": "nucleotide"
}