{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA129461",
  "communityStandardTitle": [
    "NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1308460",
        "active": true,
        "id": "COSM1308460"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39736[alleleid]",
        "alleleId": 39736,
        "preferredName": "NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30779",
        "RCV": [
          "RCV000023758",
          "RCV000462160",
          "RCV000504719"
        ],
        "variationId": 30779
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.121509013C>A?assembly=hg19",
        "id": "chr3:g.121509013C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.121790166C>A?assembly=hg38",
        "id": "chr3:g.121790166C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/387907009",
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      }
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        "@id": "http://gnomad.broadinstitute.org/variant/3-121509013-C-A?dataset=gnomad_r2_1",
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        "variant": "3:121509013 C / A"
      }
    ],
    "gnomAD_4": [
      {
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    },
    {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "3",
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          "start": 122991702
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      },
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    },
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      ],
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        "hgvsWellDefined": "ENSP00000323756.7:p.Glu213_Pro465delinsAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262627"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS275742"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008730"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008731"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058231"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058232"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058233"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080587"
    },
    {
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        {
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        }
      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS121281"
    },
    {
      "@id": "http://reg.genome.network/allele/PA129462",
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        {
          "allele": "T",
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      ],
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001018864.2:p.Glu346_Pro598delinsAspLeuLysLeuGlnLeuGlnLeuGlnArgGlnArgAlaMetArgLeuSerArgGluLeuGlnLeuSerMetLeuGluIleValHisProGlyGlnValGluLysHisTyrArgGluMetGluGluLysSerAlaLeuIleIleGlnLysHisTrpArgGlyTyrArgGluArgLysAsnPheHisGlnGlnArgGlnSerLeuIleGluTyrLysAlaAlaValThrLeuGlnArgAlaAlaLeuLysPheLeuAlaLysCysArgLysLysLysLysLeuPheAlaProTrpArgGlyLeuGlnGluLeuThrAspAlaArgArgValGluLeuLysLysArgValAspAspTyrValArgArgHisLeuGlySerProMetSerAspValValSerArgGluLeuHisAlaGlnAlaGlnGluArgLeuGlnHisTyrPheMetGlyArgAlaLeuGluGluArgAlaGlnGlnHisArgGluAlaLeuIleAlaGlnIleSerThrAsnValGluGlnLeuMetLysAlaProSerLeuLysGluAlaGluGlyLysGluProGluLeuPheLeuSerArgSerArgProValAlaAlaLysAlaLysGlnAlaHisLeuThrThrLeuLysHisIleGlnAlaProTrpTrpLysLysLeuGlyGluGluSerGlyAspGluIleAspValProLysAspGluLeuSerIleGluLeuGluAsnLeuPheIleGlyGlyThrLysProProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825331618",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN028949",
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      "hgvs": [
        "NM_001023571.3:c.637G>T"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS717665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1121,
          "referenceAllele": "G",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028949",
      "geneNCBI_id": 9657,
      "geneSymbol": "IQCB1",
      "hgvs": [
        "NR_134968.2:n.1121G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730896"
    }
  ],
  "type": "nucleotide"
}