{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115834",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17931[alleleid]",
        "alleleId": 17931,
        "preferredName": "NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2892",
        "RCV": [
          "RCV000003026",
          "RCV001580165"
        ],
        "variationId": 2892
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-42457372-G-A",
        "id": "17-42457372-G-A",
        "variant": "17:42457372 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42457372G>A?assembly=hg19",
        "id": "chr17:g.42457372G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44380004G>A?assembly=hg38",
        "id": "chr17:g.44380004G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852906",
        "rs": 137852906
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    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42457372-G-A?dataset=gnomad_r2_1",
        "id": "17-42457372-G-A",
        "variant": "17:42457372 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44380004-G-A?dataset=gnomad_r4",
        "id": "17-44380004-G-A",
        "variant": "17:44380004 G / A"
      }
    ]
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      "coordinates": [
        {
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          "end": 44380004,
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          "start": 44380003
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        "CM000679.2:g.44380004G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "referenceAllele": "G",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 39812898,
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      "referenceGenome": "NCBI36",
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    },
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      "coordinates": [
        {
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        "LRG_479:g.14502C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
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          "start": 1925
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 545,
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          "start": 544
        }
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      "gene": "http://reg.genome.network/gene/GN006138",
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      "referenceSequence": "http://reg.genome.network/refseq/RS393583"
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    {
      "@id": "http://reg.genome.network/allele/PA115836",
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      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115836",
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        {
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA115836",
      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
          "referenceAllele": "C",
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        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000410.2:p.Arg584_Glu1039delinsAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.1750C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.1750C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Arg584Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Arg584Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}