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        "hgvsWellDefined": "NP_001317678.1:p.Glu819_Asp983delinsThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517073"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462893",
      "coordinates": [
        {
          "allele": "T",
          "end": 4026,
          "referenceAllele": "G",
          "start": 4025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.4:c.3502G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Glu1168Ter",
        "hgvsWellDefined": "NP_003631.2:p.Glu1168_Asp1332delinsThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3871,
          "referenceAllele": "G",
          "start": 3870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XM_011519136.2:c.3544G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517438.1:p.Glu1182Ter",
        "hgvsWellDefined": "XP_011517438.1:p.Glu1182_Asp1346delinsThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545238"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3891,
          "referenceAllele": "G",
          "start": 3890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "XR_929859.3:n.3891G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829462893",
      "coordinates": [
        {
          "allele": "T",
          "end": 3818,
          "referenceAllele": "G",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_003640.5:c.3502G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003631.2:p.Glu1168Ter",
        "hgvsWellDefined": "NP_003631.2:p.Glu1168_Asp1332delinsThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666111",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374647.10:c.3502G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003640.5:c.3502G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363779.5:p.Glu1168Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003631.2:p.Glu1168Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826988928",
      "coordinates": [
        {
          "allele": "T",
          "end": 3673,
          "referenceAllele": "G",
          "start": 3672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001318360.2:c.3160G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305289.1:p.Glu1054Ter",
        "hgvsWellDefined": "NP_001305289.1:p.Glu1054_Asp1218delinsThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580204051",
      "coordinates": [
        {
          "allele": "T",
          "end": 3630,
          "referenceAllele": "G",
          "start": 3629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NM_001330749.2:c.2455G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317678.1:p.Glu819Ter",
        "hgvsWellDefined": "NP_001317678.1:p.Glu819_Asp983delinsThrSerSerValValSerGlySerGluMetSerGlyLysTyrSerHisSerAsnSerArgIleSerAlaArgSerSerLysAsnArgArgLysAlaGluArgLysLysHisSerLeuLysGluGlySerProLeuGluAspLeuAlaLeuLeuGluAlaLeuSerGluValValGlnAsnThrGluAsnLeuLysAspGluValTyrHisIleLeuLysValLeuPheLeuPheGluPheAspGluGlnGlyArgGluLeuGlnLysAlaPheGluAspThrLeuGlnLeuMetGluArgSerLeuProGluIleTrpThrLeuThrTyrGlnGlnAsnSerAlaThrProValLeuGlyProAsnSerThrAlaAsnSerIleMetAlaSerTyrGlnGlnGlnLysThrSerValProValLeuAspAlaGluLeuPheIleProProLysIleAsnArgArgThrGlnTrpLysLeuSerLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687100"
    }
  ],
  "type": "nucleotide"
}