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  "communityStandardTitle": [
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        "hgvsWellDefined": "ENSP00000479130.1:p.Gln80_Ser576delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402124"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825631096",
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001127214.3:c.238C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120686.1:p.Gln80Ter",
        "hgvsWellDefined": "NP_001120686.1:p.Gln80_Ser576delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011548"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826325992",
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001243279.2:c.238C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230208.1:p.Gln80Ter",
        "hgvsWellDefined": "NP_001230208.1:p.Gln80_Ser576delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 1684,
          "referenceAllele": "C",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 1685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_001284316.1:c.-129-1685C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271245.1:n.-129-1685C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022566"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499301093",
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NM_174917.4:c.238C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_777577.2:p.Gln80_Ser576delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 619,
          "referenceAllele": "C",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.1:n.619C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_005256293.1:c.238C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256350.1:p.Gln80Ter",
        "hgvsWellDefined": "XP_005256350.1:p.Gln80_Phe610delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522942.1:c.238C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521244.1:p.Gln80Ter",
        "hgvsWellDefined": "XP_011521244.1:p.Gln80_Phe610delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522943.1:c.238C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521245.1:p.Gln80Ter",
        "hgvsWellDefined": "XP_011521245.1:p.Gln80_Phe610delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgLeuLysGluHisProThrLysArgArgGluAsnSerIleLeuAsnIleGlyArgLysArgAsnLeuAlaSerGlyMetArgAlaLeuThrGlyArgMetAlaAlaArgArgAlaAlaValSerSerGluValSerSerSerAspGluThrAspAsnSerLeuLysArgHisLysLeuProArgLeuThrGlnThrLeuLysGlnThrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XM_011522944.1:c.238C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011521246.1:p.Gln80_Glu447delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProValGlyCysAlaGlyPheValGlnCysHisArgProGlnSerProArgAsnMetAspGlyMetSerLysAlaArgLeuAlaGluAlaAlaGlyCysSerIleAlaLeuTrpAlaSerSerLeuLeuIlePheSerLysGlnProLeuArgTrpGlyHisIleLeuHisSerHisThrArgThrHisGluProAlaHisGlyHisAlaAlaGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933238.1:n.582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "XR_933239.1:n.582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
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      "proteinEffect": {
        "hgvs": "NP_777577.2:p.Gln80Ter",
        "hgvsWellDefined": "NP_777577.2:p.Gln80_Ser576delinsGluIleCysArgLeuCysGlyCysValGlyGlyAspLeuArgGluGluArgValSerPheLeuCysAlaAsnAspAlaSerTyrValValAlaGlnTrpAlaSerTrpMetSerGlyGlyValAlaValProLeuTyrArgLysHisProAlaAlaGlnLeuGluTyrValIleCysAspSerGlnSerSerValValLeuAlaSerGlnGluTyrLeuGluLeuLeuSerProValValArgLysLeuGlyValProLeuLeuProLeuThrProAlaIleTyrThrGlyAlaValGluGluProAlaGluValProValProGluGlnGlyTrpArgAsnLysGlyAlaMetIleIleTyrThrSerGlyThrThrGlyArgProLysGlyValLeuSerThrHisGlnAsnIleArgAlaValValThrGlyLeuValHisLysTrpAlaTrpThrLysAspAspValIleLeuHisValLeuProLeuHisHisValHisGlyValValAsnAlaLeuLeuCysProLeuTrpValGlyAlaThrCysValMetMetProGluPheSerProGlnGlnValTrpGluLysPheLeuSerSerGluThrProArgIleAsnValPheMetAlaValProThrIleTyrThrLysLeuMetGluTyrTyrAspArgHisPheThrGlnProHisAlaGlnAspPheLeuArgAlaValCysGluGluLysIleArgLeuMetValSerGlySerAlaAlaLeuProLeuProValLeuGluLysTrpLysAsnIleThrGlyHisThrLeuLeuGluArgTyrGlyMetThrGluIleGlyMetAlaLeuSerGlyProLeuThrThrAlaValArgLeuProGlySerValGlyThrProLeuProGlyValGlnValArgIleValSerGluAsnProGlnArgGluAlaCysSerTyrThrIleHisAlaGluGlyAspGluArgGlyThrLysValThrProGlyPheGluGluLysGluGlyGluLeuLeuValArgGlyProSerValPheArgGluTyrTrpAsnLysProGluGluThrLysSerAlaPheThrLeuAspGlyTrpPheLysThrGlyAspThrValValPheLysAspGlyGlnTyrTrpIleArgGlyArgThrSerValAspIleIleLysThrGlyGlyTyrLysValSerAlaLeuGluValGluTrpHisLeuLeuAlaHisProSerIleThrAspValAlaValIleGlyValProAspMetThrTrpGlyGlnArgValThrAlaValValThrLeuArgGluGlyHisSerLeuSerHisArgGluLeuLysGluTrpAlaArgAsnValLeuAlaProTyrAlaValProSerGluLeuValLeuValGluGluIleProArgAsnGlnMetGlyLysIleAspLysLysAlaLeuIleArgHisPheHisProSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_104293.2:n.576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147928.2:n.576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "C",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027288",
      "geneNCBI_id": 197322,
      "geneSymbol": "ACSF3",
      "hgvs": [
        "NR_147929.2:n.576C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704610"
    }
  ],
  "type": "nucleotide"
}