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  "communityStandardTitle": [
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      "proteinEffect": {
        "hgvs": "XP_016857724.1:p.Gly117Ter",
        "hgvsWellDefined": "XP_016857724.1:p.Gly117_Ser591delinsSerGlnValArgCysGluGlyPheValCysAlaGlnThrGlyArgCysValAsnArgArgLeuLeuCysAsnGlyAspAsnAspCysGlyAspGlnSerAspGluAlaAsnCysArgArgIleTyrLysLysCysGlnHisGluMetAspGlnTyrTrpGlyIleGlySerLeuAlaSerGlyIleAsnLeuPheThrAsnSerPheGluGlyProValLeuAspHisArgTyrTyrAlaGlyGlyCysSerProHisTyrIleLeuAsnThrArgPheArgLysProTyrAsnValGluSerTyrThrProGlnThrGlnGlyLysTyrGluPheIleLeuLysGluTyrGluSerTyrSerAspPheGluArgAsnValThrGluLysMetAlaSerLysSerGlyPheSerPheGlyPheLysIleProGlyIlePheGluLeuGlyIleSerSerGlnSerAspArgGlyLysHisTyrIleArgArgThrLysArgPheSerHisThrLysSerValPheLeuHisAlaArgSerAspLeuGluValAlaHisTyrLysLeuLysProArgSerLeuMetLeuHisTyrGluPheLeuGlnArgValLysArgLeuProLeuGluTyrSerTyrGlyGluTyrArgAspLeuPheArgAspPheGlyThrHisTyrIleThrGluAlaValLeuGlyGlyIleTyrGluTyrThrLeuValMetAsnLysGluAlaMetGluArgGlyAspTyrThrLeuAsnAsnValHisAlaCysAlaLysAsnAspPheLysIleGlyGlyAlaIleGluGluValTyrValSerLeuGlyValSerValGlyLysCysArgGlyIleLeuAsnGluIleLysAspArgAsnLysArgAspThrMetValGluAspLeuValValLeuValArgGlyGlyAlaSerGluHisIleThrThrLeuAlaTyrGlnGluLeuProThrAlaAspLeuMetGlnGluTrpGlyAspAlaValGlnTyrAsnProAlaIleIleLysValLysValGluProLeuTyrGluLeuValThrAlaThrAspPheAlaTyrSerSerThrValArgGlnAsnMetLysGlnAlaLeuGluGluPheGlnLysGluValSerSerCysHisCysAlaProCysGlnGlyAsnGlyValProValLeuLysGlySerArgCysAspCysIleCysProValGlySerGlnGlyLeuAlaCysGluValSerTyrArgLysAsnThrProIleAspGlyLysTrpAsnCysTrpSerAsnTrpSerSerCysSerGlyArgArgLysThrArgGlnArgGlnCysAsnAsnProProProGlnAsnGlyGlySerProCysSerGlyProAlaSerGluThrLeuAspCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001353",
      "geneNCBI_id": 732,
      "geneSymbol": "C8B",
      "hgvs": [
        "XR_001737397.1:n.449G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS588157"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063874051",
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "G",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001353",
      "geneNCBI_id": 732,
      "geneSymbol": "C8B",
      "hgvs": [
        "NM_000066.4:c.349G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000057.3:p.Gly117Ter",
        "hgvsWellDefined": "NP_000057.3:p.Gly117_Ser591delinsSerGlnValArgCysGluGlyPheValCysAlaGlnThrGlyArgCysValAsnArgArgLeuLeuCysAsnGlyAspAsnAspCysGlyAspGlnSerAspGluAlaAsnCysArgArgIleTyrLysLysCysGlnHisGluMetAspGlnTyrTrpGlyIleGlySerLeuAlaSerGlyIleAsnLeuPheThrAsnSerPheGluGlyProValLeuAspHisArgTyrTyrAlaGlyGlyCysSerProHisTyrIleLeuAsnThrArgPheArgLysProTyrAsnValGluSerTyrThrProGlnThrGlnGlyLysTyrGluPheIleLeuLysGluTyrGluSerTyrSerAspPheGluArgAsnValThrGluLysMetAlaSerLysSerGlyPheSerPheGlyPheLysIleProGlyIlePheGluLeuGlyIleSerSerGlnSerAspArgGlyLysHisTyrIleArgArgThrLysArgPheSerHisThrLysSerValPheLeuHisAlaArgSerAspLeuGluValAlaHisTyrLysLeuLysProArgSerLeuMetLeuHisTyrGluPheLeuGlnArgValLysArgLeuProLeuGluTyrSerTyrGlyGluTyrArgAspLeuPheArgAspPheGlyThrHisTyrIleThrGluAlaValLeuGlyGlyIleTyrGluTyrThrLeuValMetAsnLysGluAlaMetGluArgGlyAspTyrThrLeuAsnAsnValHisAlaCysAlaLysAsnAspPheLysIleGlyGlyAlaIleGluGluValTyrValSerLeuGlyValSerValGlyLysCysArgGlyIleLeuAsnGluIleLysAspArgAsnLysArgAspThrMetValGluAspLeuValValLeuValArgGlyGlyAlaSerGluHisIleThrThrLeuAlaTyrGlnGluLeuProThrAlaAspLeuMetGlnGluTrpGlyAspAlaValGlnTyrAsnProAlaIleIleLysValLysValGluProLeuTyrGluLeuValThrAlaThrAspPheAlaTyrSerSerThrValArgGlnAsnMetLysGlnAlaLeuGluGluPheGlnLysGluValSerSerCysHisCysAlaProCysGlnGlyAsnGlyValProValLeuLysGlySerArgCysAspCysIleCysProValGlySerGlnGlyLeuAlaCysGluValSerTyrArgLysAsnThrProIleAspGlyLysTrpAsnCysTrpSerAsnTrpSerSerCysSerGlyArgArgLysThrArgGlnArgGlnCysAsnAsnProProProGlnAsnGlyGlySerProCysSerGlyProAlaSerGluThrLeuAspCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662306",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371237.9:c.349G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000066.4:c.349G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000360281.4:p.Gly117Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000057.3:p.Gly117Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 638,
          "referenceAllele": "G",
          "start": 637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001353",
      "geneNCBI_id": 732,
      "geneSymbol": "C8B",
      "hgvs": [
        "NM_001278543.2:c.193G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265472.2:p.Gly65Ter",
        "hgvsWellDefined": "NP_001265472.2:p.Gly65_Ser539delinsSerGlnValArgCysGluGlyPheValCysAlaGlnThrGlyArgCysValAsnArgArgLeuLeuCysAsnGlyAspAsnAspCysGlyAspGlnSerAspGluAlaAsnCysArgArgIleTyrLysLysCysGlnHisGluMetAspGlnTyrTrpGlyIleGlySerLeuAlaSerGlyIleAsnLeuPheThrAsnSerPheGluGlyProValLeuAspHisArgTyrTyrAlaGlyGlyCysSerProHisTyrIleLeuAsnThrArgPheArgLysProTyrAsnValGluSerTyrThrProGlnThrGlnGlyLysTyrGluPheIleLeuLysGluTyrGluSerTyrSerAspPheGluArgAsnValThrGluLysMetAlaSerLysSerGlyPheSerPheGlyPheLysIleProGlyIlePheGluLeuGlyIleSerSerGlnSerAspArgGlyLysHisTyrIleArgArgThrLysArgPheSerHisThrLysSerValPheLeuHisAlaArgSerAspLeuGluValAlaHisTyrLysLeuLysProArgSerLeuMetLeuHisTyrGluPheLeuGlnArgValLysArgLeuProLeuGluTyrSerTyrGlyGluTyrArgAspLeuPheArgAspPheGlyThrHisTyrIleThrGluAlaValLeuGlyGlyIleTyrGluTyrThrLeuValMetAsnLysGluAlaMetGluArgGlyAspTyrThrLeuAsnAsnValHisAlaCysAlaLysAsnAspPheLysIleGlyGlyAlaIleGluGluValTyrValSerLeuGlyValSerValGlyLysCysArgGlyIleLeuAsnGluIleLysAspArgAsnLysArgAspThrMetValGluAspLeuValValLeuValArgGlyGlyAlaSerGluHisIleThrThrLeuAlaTyrGlnGluLeuProThrAlaAspLeuMetGlnGluTrpGlyAspAlaValGlnTyrAsnProAlaIleIleLysValLysValGluProLeuTyrGluLeuValThrAlaThrAspPheAlaTyrSerSerThrValArgGlnAsnMetLysGlnAlaLeuGluGluPheGlnLysGluValSerSerCysHisCysAlaProCysGlnGlyAsnGlyValProValLeuLysGlySerArgCysAspCysIleCysProValGlySerGlnGlyLeuAlaCysGluValSerTyrArgLysAsnThrProIleAspGlyLysTrpAsnCysTrpSerAsnTrpSerSerCysSerGlyArgArgLysThrArgGlnArgGlnCysAsnAsnProProProGlnAsnGlyGlySerProCysSerGlyProAlaSerGluThrLeuAspCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001353",
      "geneNCBI_id": 732,
      "geneSymbol": "C8B",
      "hgvs": [
        "NM_001278544.2:c.163G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265473.2:p.Gly55Ter",
        "hgvsWellDefined": "NP_001265473.2:p.Gly55_Ser529delinsSerGlnValArgCysGluGlyPheValCysAlaGlnThrGlyArgCysValAsnArgArgLeuLeuCysAsnGlyAspAsnAspCysGlyAspGlnSerAspGluAlaAsnCysArgArgIleTyrLysLysCysGlnHisGluMetAspGlnTyrTrpGlyIleGlySerLeuAlaSerGlyIleAsnLeuPheThrAsnSerPheGluGlyProValLeuAspHisArgTyrTyrAlaGlyGlyCysSerProHisTyrIleLeuAsnThrArgPheArgLysProTyrAsnValGluSerTyrThrProGlnThrGlnGlyLysTyrGluPheIleLeuLysGluTyrGluSerTyrSerAspPheGluArgAsnValThrGluLysMetAlaSerLysSerGlyPheSerPheGlyPheLysIleProGlyIlePheGluLeuGlyIleSerSerGlnSerAspArgGlyLysHisTyrIleArgArgThrLysArgPheSerHisThrLysSerValPheLeuHisAlaArgSerAspLeuGluValAlaHisTyrLysLeuLysProArgSerLeuMetLeuHisTyrGluPheLeuGlnArgValLysArgLeuProLeuGluTyrSerTyrGlyGluTyrArgAspLeuPheArgAspPheGlyThrHisTyrIleThrGluAlaValLeuGlyGlyIleTyrGluTyrThrLeuValMetAsnLysGluAlaMetGluArgGlyAspTyrThrLeuAsnAsnValHisAlaCysAlaLysAsnAspPheLysIleGlyGlyAlaIleGluGluValTyrValSerLeuGlyValSerValGlyLysCysArgGlyIleLeuAsnGluIleLysAspArgAsnLysArgAspThrMetValGluAspLeuValValLeuValArgGlyGlyAlaSerGluHisIleThrThrLeuAlaTyrGlnGluLeuProThrAlaAspLeuMetGlnGluTrpGlyAspAlaValGlnTyrAsnProAlaIleIleLysValLysValGluProLeuTyrGluLeuValThrAlaThrAspPheAlaTyrSerSerThrValArgGlnAsnMetLysGlnAlaLeuGluGluPheGlnLysGluValSerSerCysHisCysAlaProCysGlnGlyAsnGlyValProValLeuLysGlySerArgCysAspCysIleCysProValGlySerGlnGlyLeuAlaCysGluValSerTyrArgLysAsnThrProIleAspGlyLysTrpAsnCysTrpSerAsnTrpSerSerCysSerGlyArgArgLysThrArgGlnArgGlnCysAsnAsnProProProGlnAsnGlyGlySerProCysSerGlyProAlaSerGluThrLeuAspCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715588"
    }
  ],
  "type": "nucleotide"
}