{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA229004",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106671[alleleid]",
        "alleleId": 106671,
        "preferredName": "NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100811",
        "RCV": [
          "RCV000087169",
          "RCV002510782"
        ],
        "variationId": 100811
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42462317C>T?assembly=hg19",
        "id": "chr17:g.42462317C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44384949C>T?assembly=hg38",
        "id": "chr17:g.44384949C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/483352692",
        "rs": 483352692
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44384949,
          "referenceAllele": "C",
          "start": 44384948
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      ],
      "hgvs": [
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        "CM000679.2:g.44384949C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 42462317,
          "referenceAllele": "C",
          "start": 42462316
        }
      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
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          "end": 39817843,
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          "start": 39817842
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
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        }
      ],
      "hgvs": [
        "NG_008331.1:g.9557G>A",
        "LRG_479:g.9557G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
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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": "NM_000419.5:c.798G>A"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000262407.5:p.Trp266Ter"
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          "RefSeq": {
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          }
        }
      }
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    {
      "coordinates": [
        {
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          "end": 229,
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          "start": 228
        }
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      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS769963"
    },
    {
      "coordinates": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000262407.5:p.Trp266_Glu1039delinsGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 249,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS391636"
    },
    {
      "coordinates": [
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
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      "referenceSequence": "http://reg.genome.network/refseq/RS393260"
    },
    {
      "coordinates": [
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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/RS393313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 39,
          "endIntronDirection": "+",
          "endIntronOffset": 215,
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          "startIntronOffset": 214
        }
      ],
      "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": "A",
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      "gene": "http://reg.genome.network/gene/GN006138",
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      "referenceSequence": "http://reg.genome.network/refseq/RS393434"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS393907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229006",
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      "gene": "http://reg.genome.network/gene/GN006138",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000410.2:p.Trp266_Glu1039delinsGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 830,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011523051.1:p.Trp266Ter",
        "hgvsWellDefined": "XP_011523051.1:p.Trp266_Glu1005delinsGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011523052.1:p.Trp266Ter",
        "hgvsWellDefined": "XP_011523052.1:p.Trp266_Glu1000delinsGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229006",
      "coordinates": [
        {
          "allele": "A",
          "end": 926,
          "referenceAllele": "G",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.798G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Trp266Ter",
        "hgvsWellDefined": "NP_000410.2:p.Trp266_Glu1039delinsGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA229006",
      "coordinates": [
        {
          "allele": "A",
          "end": 974,
          "referenceAllele": "G",
          "start": 973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.798G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Trp266Ter",
        "hgvsWellDefined": "NP_000410.2:p.Trp266_Glu1039delinsGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.798G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.798G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Trp266Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Trp266Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}