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  "communityStandardTitle": [
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      "proteinEffect": {
        "hgvs": "NP_001160022.1:p.Arg82Ter",
        "hgvsWellDefined": "NP_001160022.1:p.Arg82_Pro460delinsGlyProAspGlyGluLeuHisAlaAsnLeuLeuCysProValAspValLeuAspValProGluGlyThrLeuProAspLysGlnSerThrGluGlnAlaIleGlnLeuLeuGluLysMetLysThrSerAlaSerProPhePheLeuAlaValGlyTyrHisLysProHisIleProPheArgTyrProLysGluPheGlnLysLeuTyrProLeuGluAsnIleThrLeuAlaProAspProGluValProAspGlyLeuProProValAlaTyrAsnProTrpMetAspIleArgGlnArgGluAspValGlnAlaLeuAsnIleSerValProTyrGlyProIleProValAspPheGlnArgLysIleArgGlnSerTyrPheAlaSerValSerTyrLeuAspThrGlnValGlyArgLeuLeuSerAlaLeuAspAspLeuGlnLeuAlaAsnSerThrIleIleAlaPheThrSerAspHisGlyTrpAlaLeuGlyGluHisGlyGluTrpAlaLysTyrSerAsnPheAspValAlaThrHisValProLeuIlePheTyrValProGlyArgThrAlaSerLeuProGluAlaGlyGluLysLeuPheProTyrLeuAspProPheAspSerAlaSerGlnLeuMetGluProGlyArgGlnSerMetAspLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeuGlnValProProArgCysProValProSerPheHisValGluLeuCysArgGluGlyLysAsnLeuLeuLysHisPheArgPheArgAspLeuGluGluAspProTyrLeuProGlyAsnProArgGluLeuIleAlaTyrSerGlnTyrProArgProSerAspIleProGlnTrpAsnSerAspLysProSerLeuLysAspIleLysIleMetGlyTyrSerIleArgThrIleAspTyrArgTyrThrValTrpValGlyPheAsnProAspGluPheLeuAlaAsnPheSerAspIleHisAlaGlyGluLeuTyrPheValAspSerAspProLeuGlnAspHisAsnMetTyrAsnAspSerGlnGlyGlyAspLeuPheGlnLeuLeuMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA255273",
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_000202.8:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000193.1:p.Arg172Ter",
        "hgvsWellDefined": "NP_000193.1:p.Arg172_Pro550delinsGlyProAspGlyGluLeuHisAlaAsnLeuLeuCysProValAspValLeuAspValProGluGlyThrLeuProAspLysGlnSerThrGluGlnAlaIleGlnLeuLeuGluLysMetLysThrSerAlaSerProPhePheLeuAlaValGlyTyrHisLysProHisIleProPheArgTyrProLysGluPheGlnLysLeuTyrProLeuGluAsnIleThrLeuAlaProAspProGluValProAspGlyLeuProProValAlaTyrAsnProTrpMetAspIleArgGlnArgGluAspValGlnAlaLeuAsnIleSerValProTyrGlyProIleProValAspPheGlnArgLysIleArgGlnSerTyrPheAlaSerValSerTyrLeuAspThrGlnValGlyArgLeuLeuSerAlaLeuAspAspLeuGlnLeuAlaAsnSerThrIleIleAlaPheThrSerAspHisGlyTrpAlaLeuGlyGluHisGlyGluTrpAlaLysTyrSerAsnPheAspValAlaThrHisValProLeuIlePheTyrValProGlyArgThrAlaSerLeuProGluAlaGlyGluLysLeuPheProTyrLeuAspProPheAspSerAlaSerGlnLeuMetGluProGlyArgGlnSerMetAspLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeuGlnValProProArgCysProValProSerPheHisValGluLeuCysArgGluGlyLysAsnLeuLeuLysHisPheArgPheArgAspLeuGluGluAspProTyrLeuProGlyAsnProArgGluLeuIleAlaTyrSerGlnTyrProArgProSerAspIleProGlnTrpAsnSerAspLysProSerLeuLysAspIleLysIleMetGlyTyrSerIleArgThrIleAspTyrArgTyrThrValTrpValGlyPheAsnProAspGluPheLeuAlaAsnPheSerAspIleHisAlaGlyGluLeuTyrPheValAspSerAspProLeuGlnAspHisAsnMetTyrAsnAspSerGlnGlyGlyAspLeuPheGlnLeuLeuMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340855.11:c.514C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000202.8:c.514C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339801.6:p.Arg172Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000193.1:p.Arg172Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989955",
      "coordinates": [
        {
          "allele": "T",
          "end": 639,
          "referenceAllele": "C",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_001166550.4:c.244C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001160022.1:p.Arg82Ter",
        "hgvsWellDefined": "NP_001160022.1:p.Arg82_Pro460delinsGlyProAspGlyGluLeuHisAlaAsnLeuLeuCysProValAspValLeuAspValProGluGlyThrLeuProAspLysGlnSerThrGluGlnAlaIleGlnLeuLeuGluLysMetLysThrSerAlaSerProPhePheLeuAlaValGlyTyrHisLysProHisIleProPheArgTyrProLysGluPheGlnLysLeuTyrProLeuGluAsnIleThrLeuAlaProAspProGluValProAspGlyLeuProProValAlaTyrAsnProTrpMetAspIleArgGlnArgGluAspValGlnAlaLeuAsnIleSerValProTyrGlyProIleProValAspPheGlnArgLysIleArgGlnSerTyrPheAlaSerValSerTyrLeuAspThrGlnValGlyArgLeuLeuSerAlaLeuAspAspLeuGlnLeuAlaAsnSerThrIleIleAlaPheThrSerAspHisGlyTrpAlaLeuGlyGluHisGlyGluTrpAlaLysTyrSerAsnPheAspValAlaThrHisValProLeuIlePheTyrValProGlyArgThrAlaSerLeuProGluAlaGlyGluLysLeuPheProTyrLeuAspProPheAspSerAlaSerGlnLeuMetGluProGlyArgGlnSerMetAspLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeuGlnValProProArgCysProValProSerPheHisValGluLeuCysArgGluGlyLysAsnLeuLeuLysHisPheArgPheArgAspLeuGluGluAspProTyrLeuProGlyAsnProArgGluLeuIleAlaTyrSerGlnTyrProArgProSerAspIleProGlnTrpAsnSerAspLysProSerLeuLysAspIleLysIleMetGlyTyrSerIleArgThrIleAspTyrArgTyrThrValTrpValGlyPheAsnProAspGluPheLeuAlaAsnPheSerAspIleHisAlaGlyGluLeuTyrPheValAspSerAspProLeuGlnAspHisAsnMetTyrAsnAspSerGlnGlyGlyAspLeuPheGlnLeuLeuMetProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678512"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829630607",
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NM_006123.5:c.514C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006114.1:p.Arg172Ter",
        "hgvsWellDefined": "NP_006114.1:p.Arg172_Thr343delinsGlyProAspGlyGluLeuHisAlaAsnLeuLeuCysProValAspValLeuAspValProGluGlyThrLeuProAspLysGlnSerThrGluGlnAlaIleGlnLeuLeuGluLysMetLysThrSerAlaSerProPhePheLeuAlaValGlyTyrHisLysProHisIleProPheArgTyrProLysGluPheGlnLysLeuTyrProLeuGluAsnIleThrLeuAlaProAspProGluValProAspGlyLeuProProValAlaTyrAsnProTrpMetAspIleArgGlnArgGluAspValGlnAlaLeuAsnIleSerValProTyrGlyProIleProValAspPheGlnArgLysIleArgGlnSerTyrPheAlaSerValSerTyrLeuAspThrGlnValGlyArgLeuLeuSerAlaLeuAspAspLeuGlnLeuAlaAsnSerThrIleIleAlaPheThrSerAspHisGlyPheLeuMetArgThrAsnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005389",
      "geneNCBI_id": 3423,
      "geneSymbol": "IDS",
      "hgvs": [
        "NR_104128.2:n.683C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702935"
    }
  ],
  "type": "nucleotide"
}