{
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  "communityStandardTitle": [
    "NM_001099287.2(NIPAL4):c.456dup (p.Ser153GlufsTer26)"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
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      "coordinates": [
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          }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755566"
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    {
      "coordinates": [
        {
          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN028018",
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        "hgvsWellDefined": "ENSP00000311687.7:p.[Ser215_Leu219delinsGluSerGluProAla;Lys221_Leu222delinsGluAla;Gly223_Cys224insLeu;Val225_Ile226delinsAspLeu;Val228_Ala229del;Ser231_Ile236delinsArgLys;Ala238_Val244delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256610"
    },
    {
      "coordinates": [
        {
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      "geneSymbol": "NIPAL4",
      "hgvs": [
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        "hgvsWellDefined": "ENSP00000406456.2:p.[Ser196_Leu200delinsGluSerGluProAla;Lys202_Leu203delinsGluAla;Gly204_Cys205insLeu;Val206_Ile207delinsAspLeu;Val209_Ala210del;Ser212_Ile217delinsArgLys;Ala219_Val225delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293545"
    },
    {
      "coordinates": [
        {
          "allele": "C",
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          "endIntronDirection": "+",
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          "startIntronDirection": "+",
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      "gene": "http://reg.genome.network/gene/GN000197",
      "geneNCBI_id": 8728,
      "geneSymbol": "ADAM19",
      "hgvs": [
        "ENST00000517951.5:c.*1741+16578dup"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS345513"
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    {
      "coordinates": [
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      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "ENST00000519150.1:c.554dup"
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      "proteinEffect": {
        "hgvs": "ENSP00000430810.1:n.554dup"
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      "referenceSequence": "http://reg.genome.network/refseq/RS346449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "NM_001099287.1:c.642dup"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001092757.1:p.[Ser215_Leu219delinsGluSerGluProAla;Lys221_Leu222delinsGluAla;Gly223_Cys224insLeu;Val225_Ile226delinsAspLeu;Val228_Ala229del;Ser231_Ile236delinsArgLys;Ala238_Val244delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
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        "hgvsWellDefined": "NP_001165763.1:p.[Ser196_Leu200delinsGluSerGluProAla;Lys202_Leu203delinsGluAla;Gly204_Cys205insLeu;Val206_Ile207delinsAspLeu;Val209_Ala210del;Ser212_Ile217delinsArgLys;Ala219_Val225delinsSerAspGlyAspThrCysSer]"
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      "referenceSequence": "http://reg.genome.network/refseq/RS015443"
    },
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      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN028018",
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      "geneSymbol": "NIPAL4",
      "hgvs": [
        "XM_011534552.1:c.147dup"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011532854.1:p.[Ser50_Leu54delinsGluSerGluProAla;Lys56_Leu57delinsGluAla;Gly58_Cys59insLeu;Val60_Ile61delinsAspLeu;Val63_Ala64del;Ser66_Ile71delinsArgLys;Ala73_Val79delinsSerAspGlyAspThrCysSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101568"
    },
    {
      "coordinates": [
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      "geneNCBI_id": 348938,
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      "hgvs": [
        "XM_024446043.1:c.-58dup"
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      "proteinEffect": {
        "hgvs": "XP_024301811.1:n.-58dup"
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      "referenceSequence": "http://reg.genome.network/refseq/RS579732"
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    {
      "coordinates": [
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      "geneNCBI_id": 348938,
      "geneSymbol": "NIPAL4",
      "hgvs": [
        "NM_001099287.2:c.456dup"
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      "proteinEffect": {
        "hgvs": "NP_001092757.2:p.Ser153GlufsTer26",
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      "referenceSequence": "http://reg.genome.network/refseq/RS711952",
      "MANE": {
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        "maneStatus": "MANE Select",
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311687.8:p.Ser153GlufsTer26"
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          "RefSeq": {
            "hgvs": "NP_001092757.2:p.Ser153GlufsTer26"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}