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      "proteinEffect": {
        "hgvs": "XP_024303320.1:p.Gln65Ter",
        "hgvsWellDefined": "XP_024303320.1:p.Gln65_Cys319delinsLeuThrLeuSerSerGlnIleGlnAlaGlyValProAspProGlyThrGlyAlaSerSerGlyThrArgThrProAspValLysAlaPheLeuGluSerProTrpSerLeuAspProAlaSerAlaSerProGluProValProHisIleLeuAlaSerSerArgGlnTrpAspProAlaSerCysThrSerLeuGlyThrAspLysCysGluAlaLeuLeuGlyLeuCysGlnValArgGlyGlyLeuProProPheSerGluProSerSerLeuValProTrpProProGlyArgSerLeuProLysAlaValArgProProLeuSerTrpProProPheSerGlnGlnGlnThrLeuProValMetSerGlyGluAlaLeuGlyTrpLeuGlyGlnAlaGlyProLeuAlaMetGlyAlaAlaProLeuGlyGluProAlaLysGluAspProMetLeuAlaGlnGluAlaGlySerAlaLeuGlySerAspValAspAspGlyThrSerPheLeuLeuThrAlaGlyProSerSerTrpProGlySerLeuGluGlyArgGlyGlySerGlyProAlaTrpAlaProAlaGluSerSerProLeuAspValGlyGluProGlyPheLeuGlyAspProGluLeuGlySerGlnGluLeuGlnAspSerProLeuGluProTrpGlyLeuAspValAspCysAlaGlyLeuAlaLeuLysAspGluValGluSerIlePheProAspPhePheAlaCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825310736",
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027845",
      "geneNCBI_id": 402381,
      "geneSymbol": "SOHLH1",
      "hgvs": [
        "NM_001012415.3:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001012415.3:p.Gln133Ter",
        "hgvsWellDefined": "NP_001012415.3:p.Gln133_Ala328delinsLeuThrLeuSerSerGlnIleGlnAlaGlyValProAspProGlyThrGlyAlaSerSerGlyThrArgThrProAspValLysAlaPheLeuGluSerProTrpSerLeuAspProAlaSerAlaSerProGluProValProHisIleLeuAlaSerSerArgGlnTrpAspProAlaSerCysThrSerLeuGlyThrAspLysCysGluAlaLeuLeuGlyLeuCysGlnValArgGlyGlyLeuProProPheSerGluProSerSerLeuValProTrpProProGlyArgSerLeuProLysAlaValArgProProLeuSerTrpProProPheSerGlnGlnGlnThrLeuProValMetSerGlyGluAlaLeuGlyTrpLeuGlyGlnAlaGlyProLeuAlaMetGlyAlaAlaProLeuGlyGluProAlaLysGluAspProMetLeuAlaGlnGluAlaGlySerAlaLeuGlySerAspValAspAspGlyThrSerPheLeuLeuThrAlaGlyProSerSerTrpProGlyGluTrpGlyProGlyPheArgAlaGlyProProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580143523",
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027845",
      "geneNCBI_id": 402381,
      "geneSymbol": "SOHLH1",
      "hgvs": [
        "NM_001101677.2:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001095147.2:p.Gln133Ter",
        "hgvsWellDefined": "NP_001095147.2:p.Gln133_Cys387delinsLeuThrLeuSerSerGlnIleGlnAlaGlyValProAspProGlyThrGlyAlaSerSerGlyThrArgThrProAspValLysAlaPheLeuGluSerProTrpSerLeuAspProAlaSerAlaSerProGluProValProHisIleLeuAlaSerSerArgGlnTrpAspProAlaSerCysThrSerLeuGlyThrAspLysCysGluAlaLeuLeuGlyLeuCysGlnValArgGlyGlyLeuProProPheSerGluProSerSerLeuValProTrpProProGlyArgSerLeuProLysAlaValArgProProLeuSerTrpProProPheSerGlnGlnGlnThrLeuProValMetSerGlyGluAlaLeuGlyTrpLeuGlyGlnAlaGlyProLeuAlaMetGlyAlaAlaProLeuGlyGluProAlaLysGluAspProMetLeuAlaGlnGluAlaGlySerAlaLeuGlySerAspValAspAspGlyThrSerPheLeuLeuThrAlaGlyProSerSerTrpProGlySerLeuGluGlyArgGlyGlySerGlyProAlaTrpAlaProAlaGluSerSerProLeuAspValGlyGluProGlyPheLeuGlyAspProGluLeuGlySerGlnGluLeuGlnAspSerProLeuGluProTrpGlyLeuAspValAspCysAlaGlyLeuAlaLeuLysAspGluValGluSerIlePheProAspPhePheAlaCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676585",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000425225.2:c.397C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001101677.2:c.397C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000404438.1:p.Gln133Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001095147.2:p.Gln133Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}