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        "hgvsWellDefined": "NP_001361239.1:p.[Tyr344_Gly346del;Val348_Asp349del;Leu351_Leu358del;Met360_Asp371del;Met373del]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS693217"
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    {
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        {
          "allele": "",
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          "referenceAllele": "T",
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      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001361240.1:p.Tyr344ThrfsTer5",
        "hgvsWellDefined": "NP_001361240.1:p.[Tyr344_Gly346del;Val348_Asp349del;Leu351_Leu358del;Met360_Asp371del;Met373del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693218"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN011444",
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      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001361241.1:p.Tyr344ThrfsTer5",
        "hgvsWellDefined": "NP_001361241.1:p.[Tyr344_Gly346del;Val348_Asp349del;Leu351_Leu358del;Met360_Asp371del;Met373del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693219"
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN011444",
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      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001361242.1:p.Tyr358ThrfsTer5",
        "hgvsWellDefined": "NP_001361242.1:p.[Tyr358_Gly360del;Val362_Asp363del;Leu365_Leu372del;Met374_Asp385del;Met387del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693220"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN011444",
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      "geneSymbol": "STXBP1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001361243.1:p.Tyr358ThrfsTer5",
        "hgvsWellDefined": "NP_001361243.1:p.[Tyr358_Gly360del;Val362_Asp363del;Leu365_Leu372del;Met374_Asp385del;Met387del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693221"
    },
    {
      "coordinates": [
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          "allele": "",
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      ],
      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_001374315.2:c.964del"
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      "proteinEffect": {
        "hgvs": "NP_001361244.1:p.Tyr322ThrfsTer5",
        "hgvsWellDefined": "NP_001361244.1:p.[Tyr322_Gly324del;Val326_Asp327del;Leu329_Leu336del;Met338_Asp349del;Met351del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693222"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN011444",
      "geneNCBI_id": 6812,
      "geneSymbol": "STXBP1",
      "hgvs": [
        "NM_003165.6:c.1072del"
      ],
      "proteinEffect": {
        "hgvs": "NP_003156.1:p.Tyr358ThrfsTer5",
        "hgvsWellDefined": "NP_003156.1:p.[Tyr358_Gly360del;Val362_Asp363del;Leu365_Leu372del;Met374_Asp385del;Met387del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695748",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000373302.8:c.1072del"
          },
          "RefSeq": {
            "hgvs": "NM_003165.6:c.1072del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362399.3:p.Tyr358ThrfsTer5"
          },
          "RefSeq": {
            "hgvs": "NP_003156.1:p.Tyr358ThrfsTer5"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}