{
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  "communityStandardTitle": [
    "NM_022166.4(XYLT1):c.2026C>T (p.Arg676Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1871404[alleleid]",
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2137795",
        "RCV": [
          "RCV003064329"
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        "variationId": 2137795
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        "@id": "http://myvariant.info/v1/variant/chr16:g.17228331G>A?assembly=hg19",
        "id": "chr16:g.17228331G>A"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1320125389",
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    "gnomAD_4": [
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580451111",
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      "gene": "http://reg.genome.network/gene/GN015516",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011520876.1:p.Arg676_Gln772delinsTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValValThrLysCysLeuGlnCysAlaArgPheArgArgAspCysGlyGluProAsnLysProGlyProCysGlyHisGlyIleAlaPheGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6,
          "referenceAllele": "G",
          "start": 5
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      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS128916"
    },
    {
      "coordinates": [
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS128918"
    },
    {
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016879028.1:p.Arg676_Arg872delinsTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGluLysProSerAsnValLeuProAlaHisGlyAspAspValIleCysLeuGlyIleArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574283"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN015516",
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      "geneSymbol": "XYLT1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016879029.1:p.Arg676Ter",
        "hgvsWellDefined": "XP_016879029.1:p.Arg676_His870delinsTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGlyProSerHisAsnThrTrpGlyPheTrpGluLeuGlnPheLysArgArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580451111",
      "coordinates": [
        {
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          "end": 2190,
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      "gene": "http://reg.genome.network/gene/GN015516",
      "geneNCBI_id": 64131,
      "geneSymbol": "XYLT1",
      "hgvs": [
        "NM_022166.4:c.2026C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_071449.1:p.Arg676_Arg959delinsTyrTyrProMetGlyHisProAlaSerValHisLeuTyrPheLeuAlaAspArgPheGlnGlyPheLeuIleLysHisHisAlaThrAsnLeuAlaValSerLysLeuGluThrLeuGluThrTrpValMetProLysLysValPheLysIleAlaSerProProSerAspPheGlyArgLeuGlnPheSerGluValGlyThrAspTrpAspAlaLysGluArgLeuPheArgAsnPheGlyGlyLeuLeuGlyProMetAspGluProValGlyMetGlnLysTrpGlyLysGlyProAsnValThrValThrValIleTrpValAspProValAsnValIleAlaAlaThrTyrAspIleLeuIleGluSerThrAlaGluPheThrHisTyrLysProProLeuAsnLeuProLeuArgProGlyValTrpThrValLysIleLeuHisHisTrpValProValAlaGluThrLysPheLeuValAlaProLeuThrPheSerAsnArgGlnProIleLysProGluGluAlaLeuLysLeuHisAsnGlyProLeuArgAsnAlaTyrMetGluGlnSerPheGlnSerLeuAsnProValLeuSerLeuProIleAsnProAlaGlnValGluGlnAlaArgArgAsnAlaAlaSerThrGlyThrAlaLeuGluGlyTrpLeuAspSerLeuValGlyGlyMetTrpThrAlaMetAspIleCysAlaThrGlyProThrAlaCysProValMetGlnThrCysSerGlnThrAlaTrpSerSerPheSerProAspProLysSerGluLeuGlyAlaValLysProAspGlyArgLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698521",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_022166.4:c.2026C>T"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_071449.1:p.Arg676Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}