{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399801310",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5742646",
        "active": true,
        "id": "COSM5742646"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=959449[alleleid]",
        "alleleId": 959449,
        "preferredName": "NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/953033",
        "RCV": [
          "RCV001225269",
          "RCV003426003",
          "RCV003313995"
        ],
        "variationId": 953033
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42456075G>A?assembly=hg19",
        "id": "chr17:g.42456075G>A"
      }
    ],
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        "@id": "http://myvariant.info/v1/variant/chr17:g.44378707G>A?assembly=hg38",
        "id": "chr17:g.44378707G>A"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1236922680",
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      }
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    "gnomAD_4": [
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    },
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      "chromosome": "17",
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          "start": 42456074
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS769963"
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      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
        "ENST00000592462.5:n.677C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS393583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915940235",
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        {
          "allele": "T",
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        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1914,
          "referenceAllele": "C",
          "start": 1913
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915940235",
      "coordinates": [
        {
          "allele": "T",
          "end": 2010,
          "referenceAllele": "C",
          "start": 2009
        }
      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915940235",
      "coordinates": [
        {
          "allele": "T",
          "end": 2058,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000410.2:p.Arg628_Glu1039delinsIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.1882C>T"
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          "RefSeq": {
            "hgvs": "NM_000419.5:c.1882C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Arg628Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Arg628Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}