{
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  "@id": "http://reg.genome.network/allele/CA395666942",
  "communityStandardTitle": [
    "NM_004960.4(FUS):c.291C>G (p.Tyr97Ter)"
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        "id": "chr16:g.31183958C>G"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1052352",
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        "hgvsWellDefined": "ENSP00000455073.1:p.Tyr97_Ser263delinsProGlyTyrGlyGlnGlnProAlaProSerSerThrSerGlySerTyrGlySerSerSerGlnSerSerSerTyrGlyGlnProGlnSerGlySerTyrSerGlnGlnProSerTyrGlyGlyGlnGlnGlnSerTyrGlyGlnGlnGlnSerTyrAsnProProGlnGlyTyrGlyGlnGlnAsnGlnTyrAsnSerSerSerGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyAsnTyrGlyGlnAspGlnSerSerMetSerSerGlyGlyGlySerGlyGlyGlyTyrGlyAsnGlnAspGlnSerGlyGlyGlyGlySerGlyGlyTyrGlyGlnGlnAspArgGlyGlyArgGlyArgGlyGlySerGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTyrAsnArgSerSerGlyGlyTyrGluProArgGlyArgGlyGlyGlyArgGlyGlyArgGlyGlyMetGlyProSerGlyProArgIleThrSerTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS379555"
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      "referenceSequence": "http://reg.genome.network/refseq/RS380963"
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      "referenceSequence": "http://reg.genome.network/refseq/RS030092"
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      "proteinEffect": {
        "hgvs": "XP_011544083.1:p.Tyr97Ter",
        "hgvsWellDefined": "XP_011544083.1:p.Tyr97_Tyr524delinsProGlyTyrGlyGlnGlnProAlaProSerSerThrSerGlySerTyrGlySerSerSerGlnSerSerSerTyrGlyGlnProGlnSerGlySerTyrSerGlnGlnProSerTyrGlyGlyGlnGlnGlnSerTyrGlyGlnGlnGlnSerTyrAsnProProGlnGlyTyrGlyGlnGlnAsnGlnTyrAsnSerSerSerGlyGlyGlyGlyGlyGlyGlyGlyAsnTyrGlyGlnAspGlnSerSerMetSerSerGlyGlyGlySerGlyGlyGlyTyrGlyAsnGlnAspGlnSerGlyGlyGlyGlySerGlyGlyTyrGlyGlnGlnAspArgGlyGlyArgGlyArgGlyGlySerGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTyrAsnArgSerSerGlyGlyTyrGluProArgGlyArgGlyGlyGlyArgGlyGlyArgGlyGlyMetGlyGlySerAspArgGlyGlyPheAsnLysPheGlyGlyProArgAspGlnGlySerArgHisAspSerGluGlnAspAsnSerAspAsnAsnThrIlePheValGlnGlyLeuGlyGluAsnValThrIleGluSerValAlaAspTyrPheLysGlnIleGlyIleIleLysThrAsnLysLysThrGlyGlnProMetIleAsnLeuTyrThrAspArgGluThrGlyLysLeuLysGlyGluAlaThrValSerPheAspAspProProSerAlaLysAlaAlaIleAspTrpPheAspGlyLysGluPheSerGlyAsnProIleLysValSerPheAlaThrArgArgAlaAspPheAsnArgGlyGlyGlyAsnGlyArgGlyGlyArgGlyArgGlyGlyProMetGlyArgGlyGlyTyrGlyGlyGlyGlySerGlyGlyGlyGlyArgGlyGlyPheProSerGlyGlyGlyGlyGlyGlyGlyGlnGlnArgAlaGlyAspTrpLysCysProAsnProThrCysGluAsnMetAsnPheSerTrpArgAsnGluCysAsnGlnCysLysAlaProLysProAspGlyProGlyGlyGlyProGlyGlySerHisMetGlyGlyAsnTyrGlyAspAspArgArgGlyGlyArgGlyGlyTyrAspArgGlyGlyTyrArgGlyArgGlyGlyAspArgGlyGlyPheArgGlyGlyArgGlyGlyGlyAspArgGlyGlyPheGlyProGlyLysMetAspSerArgGlyGluHisArgGlnAspArgArgGluArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112665"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_005255233.5:c.-290C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255290.1:n.-290C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534258"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "XM_024450221.1:c.288C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305989.1:p.Tyr96Ter",
        "hgvsWellDefined": "XP_024305989.1:p.Tyr96_Tyr523delinsProGlyTyrGlyGlnGlnProAlaProSerSerThrSerGlySerTyrGlySerSerSerGlnSerSerSerTyrGlyGlnProGlnSerGlySerTyrSerGlnGlnProSerTyrGlyGlyGlnGlnGlnSerTyrGlyGlnGlnGlnSerTyrAsnProProGlnGlyTyrGlyGlnGlnAsnGlnTyrAsnSerSerSerGlyGlyGlyGlyGlyGlyGlyGlyAsnTyrGlyGlnAspGlnSerSerMetSerSerGlyGlyGlySerGlyGlyGlyTyrGlyAsnGlnAspGlnSerGlyGlyGlyGlySerGlyGlyTyrGlyGlnGlnAspArgGlyGlyArgGlyArgGlyGlySerGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTyrAsnArgSerSerGlyGlyTyrGluProArgGlyArgGlyGlyGlyArgGlyGlyArgGlyGlyMetGlyGlySerAspArgGlyGlyPheAsnLysPheGlyGlyProArgAspGlnGlySerArgHisAspSerGluGlnAspAsnSerAspAsnAsnThrIlePheValGlnGlyLeuGlyGluAsnValThrIleGluSerValAlaAspTyrPheLysGlnIleGlyIleIleLysThrAsnLysLysThrGlyGlnProMetIleAsnLeuTyrThrAspArgGluThrGlyLysLeuLysGlyGluAlaThrValSerPheAspAspProProSerAlaLysAlaAlaIleAspTrpPheAspGlyLysGluPheSerGlyAsnProIleLysValSerPheAlaThrArgArgAlaAspPheAsnArgGlyGlyGlyAsnGlyArgGlyGlyArgGlyArgGlyGlyProMetGlyArgGlyGlyTyrGlyGlyGlyGlySerGlyGlyGlyGlyArgGlyGlyPheProSerGlyGlyGlyGlyGlyGlyGlyGlnGlnArgAlaGlyAspTrpLysCysProAsnProThrCysGluAsnMetAsnPheSerTrpArgAsnGluCysAsnGlnCysLysAlaProLysProAspGlyProGlyGlyGlyProGlyGlySerHisMetGlyGlyAsnTyrGlyAspAspArgArgGlyGlyArgGlyGlyTyrAspArgGlyGlyTyrArgGlyArgGlyGlyAspArgGlyGlyPheArgGlyGlyArgGlyGlyGlyAspArgGlyGlyPheGlyProGlyLysMetAspSerArgGlyGluHisArgGlnAspArgArgGluArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3082801566",
      "coordinates": [
        {
          "allele": "G",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004010",
      "geneNCBI_id": 2521,
      "geneSymbol": "FUS",
      "hgvs": [
        "NM_004960.4:c.291C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004951.1:p.Tyr97Ter",
        "hgvsWellDefined": "NP_004951.1:p.Tyr97_Tyr526delinsProGlyTyrGlyGlnGlnProAlaProSerSerThrSerGlySerTyrGlySerSerSerGlnSerSerSerTyrGlyGlnProGlnSerGlySerTyrSerGlnGlnProSerTyrGlyGlyGlnGlnGlnSerTyrGlyGlnGlnGlnSerTyrAsnProProGlnGlyTyrGlyGlnGlnAsnGlnTyrAsnSerSerSerGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyAsnTyrGlyGlnAspGlnSerSerMetSerSerGlyGlyGlySerGlyGlyGlyTyrGlyAsnGlnAspGlnSerGlyGlyGlyGlySerGlyGlyTyrGlyGlnGlnAspArgGlyGlyArgGlyArgGlyGlySerGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyTyrAsnArgSerSerGlyGlyTyrGluProArgGlyArgGlyGlyGlyArgGlyGlyArgGlyGlyMetGlyGlySerAspArgGlyGlyPheAsnLysPheGlyGlyProArgAspGlnGlySerArgHisAspSerGluGlnAspAsnSerAspAsnAsnThrIlePheValGlnGlyLeuGlyGluAsnValThrIleGluSerValAlaAspTyrPheLysGlnIleGlyIleIleLysThrAsnLysLysThrGlyGlnProMetIleAsnLeuTyrThrAspArgGluThrGlyLysLeuLysGlyGluAlaThrValSerPheAspAspProProSerAlaLysAlaAlaIleAspTrpPheAspGlyLysGluPheSerGlyAsnProIleLysValSerPheAlaThrArgArgAlaAspPheAsnArgGlyGlyGlyAsnGlyArgGlyGlyArgGlyArgGlyGlyProMetGlyArgGlyGlyTyrGlyGlyGlyGlySerGlyGlyGlyGlyArgGlyGlyPheProSerGlyGlyGlyGlyGlyGlyGlyGlnGlnArgAlaGlyAspTrpLysCysProAsnProThrCysGluAsnMetAsnPheSerTrpArgAsnGluCysAsnGlnCysLysAlaProLysProAspGlyProGlyGlyGlyProGlyGlySerHisMetGlyGlyAsnTyrGlyAspAspArgArgGlyGlyArgGlyGlyTyrAspArgGlyGlyTyrArgGlyArgGlyGlyAspArgGlyGlyPheArgGlyGlyArgGlyGlyGlyAspArgGlyGlyPheGlyProGlyLysMetAspSerArgGlyGluHisArgGlnAspArgArgGluArgProTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696285",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000254108.12:c.291C>G"
          },
          "RefSeq": {
            "hgvs": "NM_004960.4:c.291C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254108.8:p.Tyr97Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004951.1:p.Tyr97Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}