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  "@id": "http://reg.genome.network/allele/CA412866733",
  "communityStandardTitle": [
    "NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=929753[alleleid]",
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/952388",
        "RCV": [
          "RCV001224493",
          "RCV002504289",
          "RCV003398968"
        ],
        "variationId": 952388
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.48649551C>G?assembly=hg19",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2062673416",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751798",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271263"
    },
    {
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139703854",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027375"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS110810"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "endIntronDirection": "-",
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          "referenceAllele": "C",
          "start": 105,
          "startIntronDirection": "-",
          "startIntronOffset": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_011543898.2:c.-29-700C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542200.1:n.-29-700C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555416"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 104,
          "endIntronDirection": "-",
          "endIntronOffset": 699,
          "referenceAllele": "C",
          "start": 104,
          "startIntronDirection": "-",
          "startIntronOffset": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "XM_024452363.1:c.-29-700C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308131.1:n.-29-700C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139703854",
      "coordinates": [
        {
          "allele": "G",
          "end": 110,
          "referenceAllele": "C",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004170",
      "geneNCBI_id": 2623,
      "geneSymbol": "GATA1",
      "hgvs": [
        "NM_002049.4:c.35C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002040.1:p.Ser12Ter",
        "hgvsWellDefined": "NP_002040.1:p.Ser12_Ser413delinsGluProLeuProGlnPheValAspProAlaLeuValSerSerThrProGluSerGlyValPhePheProSerGlyProGluGlyLeuAspAlaAlaAlaSerSerThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaLeuAlaTyrTyrArgAspAlaGluAlaTyrArgHisSerProValPheGlnValTyrProLeuLeuAsnCysMetGluGlyIleProGlyGlySerProTyrAlaGlyTrpAlaTyrGlyLysThrGlyLeuTyrProAlaSerThrValCysProThrArgGluAspSerProProGlnAlaValGluAspLeuAspGlyLysGlySerThrSerPheLeuGluThrLeuLysThrGluArgLeuSerProAspLeuLeuThrLeuGlyProAlaLeuProSerSerLeuProValProAsnSerAlaTyrGlyGlyProAspPheSerSerThrPhePheSerProThrGlySerProLeuAsnSerAlaAlaTyrSerSerProLysLeuArgGlyThrLeuProLeuProProCysGluAlaArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspArgThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleArgProLysLysArgLeuIleValSerLysArgAlaGlyThrGlnCysThrAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaSerGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisGlnValAsnArgProLeuThrMetArgLysAspGlyIleGlnThrArgAsnArgLysAlaSerGlyLysGlyLysLysLysArgGlySerSerLeuGlyGlyThrGlyAlaAlaGluGlyProAlaGlyGlyPheMetValValAlaGlyGlySerGlySerGlyAsnCysGlyGluValAlaSerGlyLeuThrLeuGlyProProGlyThrAlaHisLeuTyrGlnGlyLeuGlyProValValLeuSerGlyProValSerHisLeuMetProPheProGlyProLeuLeuGlySerProThrGlySerPheProThrGlyProMetProProThrThrSerThrThrValValAlaProLeuSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376670.9:c.35C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002049.4:c.35C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365858.3:p.Ser12Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002040.1:p.Ser12Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}