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      "proteinEffect": {
        "hgvs": "XP_005260524.1:p.Arg803Ter",
        "hgvsWellDefined": "XP_005260524.1:p.Arg803_Ser951delinsAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3004,
          "referenceAllele": "C",
          "start": 3003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528921.2:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527223.1:p.Arg803Ter",
        "hgvsWellDefined": "XP_011527223.1:p.Arg803_Ser951delinsAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2963,
          "referenceAllele": "C",
          "start": 2962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "XM_011528922.2:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011527224.1:p.Arg803Ter",
        "hgvsWellDefined": "XP_011527224.1:p.Arg803_Ser951delinsAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549305"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340061",
      "coordinates": [
        {
          "allele": "T",
          "end": 2826,
          "referenceAllele": "C",
          "start": 2825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "NM_020436.5:c.2713C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065169.1:p.Arg905Ter",
        "hgvsWellDefined": "NP_065169.1:p.Arg905_Ser1053delinsAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670010",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000217086.9:c.2713C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020436.5:c.2713C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000217086.4:p.Arg905Ter"
          },
          "RefSeq": {
            "hgvs": "NP_065169.1:p.Arg905Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826976752",
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015924",
      "geneNCBI_id": 57167,
      "geneSymbol": "SALL4",
      "hgvs": [
        "NM_001318031.2:c.1402C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001304960.1:p.Arg468Ter",
        "hgvsWellDefined": "NP_001304960.1:p.Arg468_Ser616delinsAlaPheThrThrLysGlyAsnLeuLysValHisTyrMetThrHisGlyAlaAsnAsnAsnSerAlaArgArgGlyArgLysLeuAlaIleGluAsnThrMetAlaLeuLeuGlyThrAspGlyLysArgValSerGluIlePheProLysGluIleLeuAlaProSerValAsnValAspProValValTrpAsnGlnTyrThrSerMetLeuAsnGlyGlyLeuAlaValLysThrAsnGluIleSerValIleGlnSerGlyGlyValProThrLeuProValSerLeuGlyAlaThrSerValValAsnAsnAlaThrValSerLysMetAspGlySerGlnSerGlyIleSerAlaAspValGluLysProSerAlaThrAspGlyValProLysHisGlnPheProHisPheLeuGluGluAsnLysIleAlaValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684400"
    }
  ],
  "type": "nucleotide"
}