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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354408451",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.177C>A (p.Tyr59Ter)"
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  "externalRecords": {
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        "@id": "http://myvariant.info/v1/variant/chr3:g.128205698G>T?assembly=hg19",
        "id": "chr3:g.128205698G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128486855G>T?assembly=hg38",
        "id": "chr3:g.128486855G>T"
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    ]
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      "chromosome": "3",
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        {
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      ],
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "3",
      "coordinates": [
        {
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          "start": 128205697
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      ],
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "3",
      "coordinates": [
        {
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      ],
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
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        "LRG_295:g.11333C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS004348"
    }
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914150",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
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    {
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          "start": 939
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907918"
    },
    {
      "coordinates": [
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          "referenceAllele": "C",
          "start": 400
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      "referenceSequence": "http://reg.genome.network/refseq/RS908098"
    },
    {
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        }
      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000512782.1:p.Tyr59Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS908099"
    },
    {
      "coordinates": [
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          "end": 1063,
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      "referenceSequence": "http://reg.genome.network/refseq/RS908100"
    },
    {
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      "gene": "http://reg.genome.network/gene/GN004171",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS908106"
    },
    {
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000345681.2:p.Tyr60_Gly480delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.177C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.177C>A"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000345681.2:p.Tyr59Ter"
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          "RefSeq": {
            "hgvs": "NP_116027.2:p.Tyr59Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.6:c.177C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000345681.2:p.Tyr60_Gly480delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 428,
          "referenceAllele": "C",
          "start": 427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000430265.6:c.177C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000400259.2:p.Tyr60_Gly466delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Tyr59Ter",
        "hgvsWellDefined": "ENSP00000417074.1:p.Tyr60_Gly480delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 571,
          "referenceAllele": "C",
          "start": 570
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
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      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000492608.1:c.177C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418132.1:p.Tyr59Ter",
        "hgvsWellDefined": "ENSP00000418132.1:p.Tyr59_Gly150del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS329954"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896493",
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        {
          "allele": "A",
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      "gene": "http://reg.genome.network/gene/GN004171",
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        "LRG_295t1:c.177C>A"
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      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Tyr59Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Tyr60_Gly480delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897480",
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.177C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:p.Tyr59Ter",
        "hgvsWellDefined": "NP_001139134.1:p.Tyr60_Gly466delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293791",
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "C",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.177C>A",
        "LRG_295t2:c.177C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Tyr59Ter",
        "hgvsWellDefined": "NP_116027.2:p.Tyr60_Gly480delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896493",
      "coordinates": [
        {
          "allele": "A",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.177C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Tyr59Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Tyr60_Gly480delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.177C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.177C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Tyr59Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Tyr59Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293791",
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.177C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Tyr59Ter",
        "hgvsWellDefined": "NP_116027.2:p.Tyr60_Gly480delinsAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.177C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.177C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Tyr59Ter"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Tyr59Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}