{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399804780",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1683942[alleleid]",
        "alleleId": 1683942,
        "preferredName": "NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1691463",
        "RCV": [
          "RCV002254798"
        ],
        "variationId": 1691463
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42461303A>T?assembly=hg19",
        "id": "chr17:g.42461303A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44383935A>T?assembly=hg38",
        "id": "chr17:g.44383935A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2143478260",
        "rs": 2143478260
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44383935,
          "referenceAllele": "A",
          "start": 44383934
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44383935A>T",
        "CM000679.2:g.44383935A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42461303,
          "referenceAllele": "A",
          "start": 42461302
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42461303A>T",
        "CM000679.1:g.42461303A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39816829,
          "referenceAllele": "A",
          "start": 39816828
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39816829A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10571,
          "referenceAllele": "T",
          "start": 10570
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      ],
      "hgvs": [
        "NG_008331.1:g.10571T>A",
        "LRG_479:g.10571T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "T",
          "start": 1132
        }
      ],
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      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.957T>A"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.957T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.957T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Tyr319Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Tyr319Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 388,
          "referenceAllele": "T",
          "start": 387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000648408.1:c.388T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "T",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.957T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Tyr319Ter",
        "hgvsWellDefined": "ENSP00000262407.5:p.Tyr319_Glu1039delinsPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 408,
          "referenceAllele": "T",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000589645.5:n.408T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS391636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 502,
          "referenceAllele": "T",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000591990.5:n.502T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 197,
          "referenceAllele": "T",
          "start": 196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000592226.5:n.197T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393417"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573167917",
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "T",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.957T>A",
        "LRG_479t1:c.957T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Tyr319Ter",
        "hgvsWellDefined": "NP_000410.2:p.Tyr319_Glu1039delinsPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "T",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.957T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:p.Tyr319Ter",
        "hgvsWellDefined": "XP_011523051.1:p.Tyr319_Glu1005delinsPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 989,
          "referenceAllele": "T",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.957T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:p.Tyr319Ter",
        "hgvsWellDefined": "XP_011523052.1:p.Tyr319_Glu1000delinsPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573167917",
      "coordinates": [
        {
          "allele": "A",
          "end": 1085,
          "referenceAllele": "T",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.957T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Tyr319Ter",
        "hgvsWellDefined": "NP_000410.2:p.Tyr319_Glu1039delinsPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573167917",
      "coordinates": [
        {
          "allele": "A",
          "end": 1133,
          "referenceAllele": "T",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.957T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Tyr319Ter",
        "hgvsWellDefined": "NP_000410.2:p.Tyr319_Glu1039delinsPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.957T>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.957T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Tyr319Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Tyr319Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}