{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399803529",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=979956",
        "active": true,
        "id": "COSM979956"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4868606",
        "active": true,
        "id": "COSM4868606"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=620592[alleleid]",
        "alleleId": 620592,
        "preferredName": "NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/631773",
        "RCV": [
          "RCV000778499"
        ],
        "variationId": 631773
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42458283G>A?assembly=hg19",
        "id": "chr17:g.42458283G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44380915G>A?assembly=hg38",
        "id": "chr17:g.44380915G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151179377",
        "rs": 151179377
      }
    ]
  },
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      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 44380915,
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        "CM000679.2:g.44380915G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 39813808
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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          "end": 13591,
          "referenceAllele": "C",
          "start": 13590
        }
      ],
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        "LRG_479:g.13591C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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          "end": 1533,
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      "geneSymbol": "ITGA2B",
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      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000262407.6:c.1357C>T"
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          "RefSeq": {
            "hgvs": "NM_000419.5:c.1357C>T"
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            "hgvs": "NP_000410.2:p.Arg453Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 788,
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          "start": 787
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      ],
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      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000262407.5:p.Arg453_Glu1039delinsGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
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      "gene": "http://reg.genome.network/gene/GN006138",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS393417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 152,
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          "start": 151
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      ],
      "gene": "http://reg.genome.network/gene/GN006138",
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      "geneSymbol": "ITGA2B",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS393583"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913198375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000410.2:p.Arg453_Glu1039delinsGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011523051.1:p.Arg453_Glu1005delinsGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011523052.1:p.Arg453_Glu1000delinsGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913198375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "C",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.1357C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Arg453Ter",
        "hgvsWellDefined": "NP_000410.2:p.Arg453_Glu1039delinsGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913198375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1533,
          "referenceAllele": "C",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.1357C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Arg453Ter",
        "hgvsWellDefined": "NP_000410.2:p.Arg453_Glu1039delinsGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.1357C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.1357C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Arg453Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Arg453Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}