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        "hgvsWellDefined": "XP_011541719.1:p.Ser206Asn"
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      "referenceSequence": "http://reg.genome.network/refseq/RS110339"
    },
    {
      "coordinates": [
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          "end": 1205,
          "referenceAllele": "G",
          "start": 1204
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      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
      "geneSymbol": "ALDH7A1",
      "hgvs": [
        "XM_011543417.2:c.617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541719.1:p.Ser206Asn",
        "hgvsWellDefined": "XP_011541719.1:p.Ser206Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA313152",
      "coordinates": [
        {
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      "gene": "http://reg.genome.network/gene/GN000877",
      "geneNCBI_id": 501,
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      "hgvs": [
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        "hgvsWellDefined": "NP_001173.2:p.Ser341Asn"
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      "referenceSequence": "http://reg.genome.network/refseq/RS663920",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENSP00000387123.3:p.Ser341Asn"
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    {
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      "hgvs": [
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        "hgvsWellDefined": "NP_001188306.1:p.Ser313Asn"
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      "referenceSequence": "http://reg.genome.network/refseq/RS679672"
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      "geneSymbol": "ALDH7A1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS679696"
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  ],
  "type": "nucleotide"
}