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      "coordinates": [
        {
          "allele": "",
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          "referenceAllele": "AT",
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      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374312.2:c.712_713del"
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        "hgvs": "NP_001361241.1:p.Met238GlufsTer3",
        "hgvsWellDefined": "NP_001361241.1:p.[Met238_Ile245del;Asn247_Leu266del]"
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      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374313.2:c.754_755del"
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      "proteinEffect": {
        "hgvs": "NP_001361242.1:p.Met252GlufsTer3",
        "hgvsWellDefined": "NP_001361242.1:p.[Met252_Ile259del;Asn261_Leu280del]"
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    {
      "coordinates": [
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          "allele": "",
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      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001361243.1:p.Met252GlufsTer3",
        "hgvsWellDefined": "NP_001361243.1:p.[Met252_Ile259del;Asn261_Leu280del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
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    {
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      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
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        "hgvs": "NP_001361244.1:p.Met252GlufsTer3",
        "hgvsWellDefined": "NP_001361244.1:p.[Met252_Ile259del;Asn261_Ser270del;Lys272_Asn281del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.754_755del"
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      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Met252GlufsTer3",
        "hgvsWellDefined": "NP_003156.1:p.[Met252_Ile259del;Asn261_Leu280del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
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        "protein": {
          "Ensembl": {
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        }
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    }
  ],
  "type": "nucleotide"
}