{
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  "@id": "http://reg.genome.network/allele/CA354409121",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.58C>T (p.Gln20Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1173952[alleleid]",
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        "preferredName": "NM_032638.5(GATA2):c.58C>T (p.Gln20Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1184143",
        "RCV": [
          "RCV001542101"
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        "variationId": 1184143
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    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128205817G>A?assembly=hg19",
        "id": "chr3:g.128205817G>A"
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      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128486974G>A?assembly=hg38",
        "id": "chr3:g.128486974G>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2107673689",
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    ]
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      "referenceGenome": "GRCh37",
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS908098"
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      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
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      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS329954"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896395",
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      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Gln20Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Gln20_Gly480delinsHisProAspSerHisHisProGlyLeuAlaHisAsnTyrMetGluProAlaGlnLeuLeuProProAspGluValAspValPhePheAsnHisLeuAspSerGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897382",
      "coordinates": [
        {
          "allele": "T",
          "end": 314,
          "referenceAllele": "C",
          "start": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:p.Gln20Ter",
        "hgvsWellDefined": "NP_001139134.1:p.Gln20_Gly466delinsHisProAspSerHisHisProGlyLeuAlaHisAsnTyrMetGluProAlaGlnLeuLeuProProAspGluValAspValPhePheAsnHisLeuAspSerGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293709",
      "coordinates": [
        {
          "allele": "T",
          "end": 392,
          "referenceAllele": "C",
          "start": 391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.58C>T",
        "LRG_295t2:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Gln20Ter",
        "hgvsWellDefined": "NP_116027.2:p.Gln20_Gly480delinsHisProAspSerHisHisProGlyLeuAlaHisAsnTyrMetGluProAlaGlnLeuLeuProProAspGluValAspValPhePheAsnHisLeuAspSerGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896395",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Gln20Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Gln20_Gly480delinsHisProAspSerHisHisProGlyLeuAlaHisAsnTyrMetGluProAlaGlnLeuLeuProProAspGluValAspValPhePheAsnHisLeuAspSerGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.58C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.58C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Gln20Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Gln20Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293709",
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.58C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Gln20Ter",
        "hgvsWellDefined": "NP_116027.2:p.Gln20_Gly480delinsHisProAspSerHisHisProGlyLeuAlaHisAsnTyrMetGluProAlaGlnLeuLeuProProAspGluValAspValPhePheAsnHisLeuAspSerGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.58C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.58C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Gln20Ter"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Gln20Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}