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        "hgvsWellDefined": "XP_011508326.1:p.Trp376_Thr440delinsAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1148,
          "referenceAllele": "G",
          "start": 1147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_011510025.2:c.1068G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508327.1:p.Trp356Ter",
        "hgvsWellDefined": "XP_011508327.1:p.Trp356_Thr420delinsAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1148,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_017002417.1:c.1068G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857906.1:p.Trp356Ter",
        "hgvsWellDefined": "XP_016857906.1:p.Trp356_Tyr407delinsAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558376"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_024450038.1:c.873G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305806.1:p.Trp291Ter",
        "hgvsWellDefined": "XP_024305806.1:p.Trp291_Thr355delinsAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1056,
          "referenceAllele": "G",
          "start": 1055
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      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "XM_024450039.1:c.873G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305807.1:p.Trp291Ter",
        "hgvsWellDefined": "XP_024305807.1:p.Trp291_Tyr342delinsAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583581"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827344394",
      "coordinates": [
        {
          "allele": "A",
          "end": 1583,
          "referenceAllele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
        "NM_001330723.2:c.1431G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317652.1:p.Trp477Ter",
        "hgvsWellDefined": "NP_001317652.1:p.Trp477_Thr541delinsAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluAsnIlePheGlnMetAlaArgSerGlnGlnArgAspValAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664409",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000458013.7:c.1431G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001330723.2:c.1431G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000400333.2:p.Trp477Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001317652.1:p.Trp477Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573286972",
      "coordinates": [
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          "end": 1583,
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      "gene": "http://reg.genome.network/gene/GN020073",
      "geneNCBI_id": 81609,
      "geneSymbol": "SNX27",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_112180.4:p.Trp477_Tyr528delinsAspThrAspGluGluGlyMetAlaPheCysPheGluTyrAlaArgGlyGluLysLysProArgTrpValLysIlePheThrProTyrPheAsnTyrMetHisGluCysPheGluArgValPheCysGluLeuLysTrpArgLysGluGluTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698899"
    }
  ],
  "type": "nucleotide"
}