{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA400020703",
  "communityStandardTitle": [
    "NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983905[alleleid]",
        "alleleId": 983905,
        "preferredName": "NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996209",
        "RCV": [
          "RCV001290503",
          "RCV003558800"
        ],
        "variationId": 996209
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.45360816C>T?assembly=hg19",
        "id": "chr17:g.45360816C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.47283450C>T?assembly=hg38",
        "id": "chr17:g.47283450C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1399113954",
        "rs": 1399113954
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-45360816-C-T?dataset=gnomad_r2_1",
        "id": "17-45360816-C-T",
        "variant": "17:45360816 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47283450-C-T?dataset=gnomad_r3",
        "id": "17-47283450-C-T",
        "variant": "17:47283450 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-47283450-C-T?dataset=gnomad_r4",
        "id": "17-47283450-C-T",
        "variant": "17:47283450 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 47283450,
          "referenceAllele": "C",
          "start": 47283449
        }
      ],
      "hgvs": [
        "NC_000017.11:g.47283450C>T",
        "CM000679.2:g.47283450C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 45360816,
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        }
      ],
      "hgvs": [
        "NC_000017.10:g.45360816C>T",
        "CM000679.1:g.45360816C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42715815,
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          "start": 42715814
        }
      ],
      "hgvs": [
        "NC_000017.9:g.42715815C>T"
      ],
      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
        {
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          "end": 34609,
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          "start": 34608
        }
      ],
      "hgvs": [
        "NG_008332.2:g.34609C>T",
        "LRG_481:g.34609C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001033"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000696963.1:c.262C>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908395"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.7:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.2:p.Arg88Ter",
        "hgvsWellDefined": "ENSP00000452786.2:p.Arg88_Thr788delinsValLeuGluAspArgProLeuSerAspLysGlySerGlyAspSerSerGlnValThrGlnValSerProGlnArgIleAlaLeuArgLeuArgProAspAspSerLysAsnPheSerIleGlnValArgGlnValGluAspTyrProValAspIleTyrTyrLeuMetAspLeuSerTyrSerMetLysAspAspLeuTrpSerIleGlnAsnLeuGlyThrLysLeuAlaThrGlnMetArgLysLeuThrSerAsnLeuArgIleGlyPheGlyAlaPheValAspLysProValSerProTyrMetTyrIleSerProProGluAlaLeuGluAsnProCysTyrAspMetLysThrThrCysLeuProMetPheGlyTyrLysHisValLeuThrLeuThrAspGlnValThrArgPheAsnGluGluValLysLysGlnSerValSerArgAsnArgAspAlaProGluGlyGlyPheAspAlaIleMetGlnAlaThrValCysAspGluLysIleGlyTrpArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760268",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Arg88Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Arg88Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "C",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000559488.5:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452786.1:p.Arg88Ter",
        "hgvsWellDefined": "ENSP00000452786.1:p.Arg88_Thr788delinsValLeuGluAspArgProLeuSerAspLysGlySerGlyAspSerSerGlnValThrGlnValSerProGlnArgIleAlaLeuArgLeuArgProAspAspSerLysAsnPheSerIleGlnValArgGlnValGluAspTyrProValAspIleTyrTyrLeuMetAspLeuSerTyrSerMetLysAspAspLeuTrpSerIleGlnAsnLeuGlyThrLysLeuAlaThrGlnMetArgLysLeuThrSerAsnLeuArgIleGlyPheGlyAlaPheValAspLysProValSerProTyrMetTyrIleSerProProGluAlaLeuGluAsnProCysTyrAspMetLysThrThrCysLeuProMetPheGlyTyrLysHisValLeuThrLeuThrAspGlnValThrArgPheAsnGluGluValLysLysGlnSerValSerArgAsnArgAspAlaProGluGlyGlyPheAspAlaIleMetGlnAlaThrValCysAspGluLysIleGlyTrpArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374624"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 227,
          "referenceAllele": "C",
          "start": 226
        }
      ],
      "hgvs": [
        "ENST00000560629.1:c.227C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS375491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "referenceAllele": "C",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "ENST00000571680.1:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461626.1:p.Arg88Ter",
        "hgvsWellDefined": "ENSP00000461626.1:p.Arg88_Leu443delinsValLeuGluAspArgProLeuSerAspLysGlySerGlyAspSerSerGlnValThrGlnValSerProGlnArgIleAlaLeuArgLeuArgProAspAspSerLysAsnPheSerIleGlnValArgGlnValGluAspTyrProValAspIleTyrTyrLeuMetAspLeuSerTyrSerMetLysAspAspLeuTrpSerIleGlnAsnLeuGlyThrLysLeuAlaThrGlnMetArgLysLeuThrSerAsnLeuArgIleGlyPheGlyAlaPheValAspLysProValSerProTyrMetTyrIleSerProProGluAlaLeuGluAsnProCysTyrAspMetLysThrThrCysLeuProMetPheGlyTyrLysHisValLeuThrLeuThrAspGlnValThrArgPheAsnGluGluValLysLysGlnSerValSerArgAsnArgAspAlaProGluGlyGlyPheAspAlaIleMetGlnAlaThrValCysAspGluLysIleGlyTrpArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValArgTrpAlaGlyGlnGlyLeuCysProGlyAlaSerValGlyThrGlnProProPhePheLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229677",
      "coordinates": [
        {
          "allele": "T",
          "end": 282,
          "referenceAllele": "C",
          "start": 281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.2:c.262C>T",
        "LRG_481t1:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Arg88Ter",
        "hgvsWellDefined": "NP_000203.2:p.Arg88_Thr788delinsValLeuGluAspArgProLeuSerAspLysGlySerGlyAspSerSerGlnValThrGlnValSerProGlnArgIleAlaLeuArgLeuArgProAspAspSerLysAsnPheSerIleGlnValArgGlnValGluAspTyrProValAspIleTyrTyrLeuMetAspLeuSerTyrSerMetLysAspAspLeuTrpSerIleGlnAsnLeuGlyThrLysLeuAlaThrGlnMetArgLysLeuThrSerAsnLeuArgIleGlyPheGlyAlaPheValAspLysProValSerProTyrMetTyrIleSerProProGluAlaLeuGluAsnProCysTyrAspMetLysThrThrCysLeuProMetPheGlyTyrLysHisValLeuThrLeuThrAspGlnValThrArgPheAsnGluGluValLysLysGlnSerValSerArgAsnArgAspAlaProGluGlyGlyPheAspAlaIleMetGlnAlaThrValCysAspGluLysIleGlyTrpArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006276"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499229677",
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006156",
      "geneNCBI_id": 3690,
      "geneSymbol": "ITGB3",
      "hgvs": [
        "NM_000212.3:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000203.2:p.Arg88Ter",
        "hgvsWellDefined": "NP_000203.2:p.Arg88_Thr788delinsValLeuGluAspArgProLeuSerAspLysGlySerGlyAspSerSerGlnValThrGlnValSerProGlnArgIleAlaLeuArgLeuArgProAspAspSerLysAsnPheSerIleGlnValArgGlnValGluAspTyrProValAspIleTyrTyrLeuMetAspLeuSerTyrSerMetLysAspAspLeuTrpSerIleGlnAsnLeuGlyThrLysLeuAlaThrGlnMetArgLysLeuThrSerAsnLeuArgIleGlyPheGlyAlaPheValAspLysProValSerProTyrMetTyrIleSerProProGluAlaLeuGluAsnProCysTyrAspMetLysThrThrCysLeuProMetPheGlyTyrLysHisValLeuThrLeuThrAspGlnValThrArgPheAsnGluGluValLysLysGlnSerValSerArgAsnArgAspAlaProGluGlyGlyPheAspAlaIleMetGlnAlaThrValCysAspGluLysIleGlyTrpArgAsnAspAlaSerHisLeuLeuValPheThrThrAspAlaLysThrHisIleAlaLeuAspGlyArgLeuAlaGlyIleValGlnProAsnAspGlyGlnCysHisValGlySerAspAsnHisTyrSerAlaSerThrThrMetAspTyrProSerLeuGlyLeuMetThrGluLysLeuSerGlnLysAsnIleAsnLeuIlePheAlaValThrGluAsnValValAsnLeuTyrGlnAsnTyrSerGluLeuIleProGlyThrThrValGlyValLeuSerMetAspSerSerAsnValLeuGlnLeuIleValAspAlaTyrGlyLysIleArgSerLysValGluLeuGluValArgAspLeuProGluGluLeuSerLeuSerPheAsnAlaThrCysLeuAsnAsnGluValIleProGlyLeuLysSerCysMetGlyLeuLysIleGlyAspThrValSerPheSerIleGluAlaLysValArgGlyCysProGlnGluLysGluLysSerPheThrIleLysProValGlyPheLysAspSerLeuIleValGlnValThrPheAspCysAspCysAlaCysGlnAlaGlnAlaGluProAsnSerHisArgCysAsnAsnGlyAsnGlyThrPheGluCysGlyValCysArgCysGlyProGlyTrpLeuGlySerGlnCysGluCysSerGluGluAspTyrArgProSerGlnGlnAspGluCysSerProArgGluGlyGlnProValCysSerGlnArgGlyGluCysLeuCysGlyGlnCysValCysHisSerSerAspPheGlyLysIleThrGlyLysTyrCysGluCysAspAspPheSerCysValArgTyrLysGlyGluMetCysSerGlyHisGlyGlnCysSerCysGlyAspCysLeuCysAspSerAspTrpThrGlyTyrTyrCysAsnCysThrThrArgThrAspThrCysMetSerSerAsnGlyLeuLeuCysSerGlyArgGlyLysCysGluCysGlySerCysValCysIleGlnProGlySerTyrGlyAspThrCysGluLysCysProThrCysProAspAlaCysThrPheLysLysGluCysValGluCysLysLysPheAspArgGlyAlaLeuHisAspGluAsnThrCysAsnArgTyrCysArgAspGluIleGluSerValLysGluLeuLysAspThrGlyLysAspAlaValAsnCysThrTyrLysAsnGluAspAspCysValValArgPheGlnTyrTyrGluAspSerSerGlyLysSerIleLeuTyrValValGluGluProGluCysProLysGlyProAspIleLeuValValLeuLeuSerValMetGlyAlaIleLeuLeuIleGlyLeuAlaAlaLeuLeuIleTrpLysLeuLeuIleThrIleHisAspArgLysGluPheAlaLysPheGluGluGluArgAlaArgAlaLysTrpAspThrAlaAsnAsnProLeuTyrLysGluAlaThrSerThrPheThrAsnIleThrTyrArgGlyThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674746",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000559488.7:c.262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000212.3:c.262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000452786.2:p.Arg88Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000203.2:p.Arg88Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}