{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA264807",
  "communityStandardTitle": [
    "NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77880[alleleid]",
        "alleleId": 77880,
        "preferredName": "NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66995",
        "RCV": [
          "RCV000057517"
        ],
        "variationId": 66995
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43612887C>T?assembly=hg19",
        "id": "chr6:g.43612887C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.43645150C>T?assembly=hg38",
        "id": "chr6:g.43645150C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515488",
        "rs": 397515488
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/6-43645150-C-T?dataset=gnomad_r4",
        "id": "6-43645150-C-T",
        "variant": "6:43645150 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43645150,
          "referenceAllele": "C",
          "start": 43645149
        }
      ],
      "hgvs": [
        "NC_000006.12:g.43645150C>T",
        "CM000668.2:g.43645150C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43612887,
          "referenceAllele": "C",
          "start": 43612886
        }
      ],
      "hgvs": [
        "NC_000006.11:g.43612887C>T",
        "CM000668.1:g.43612887C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "T",
          "end": 43720865,
          "referenceAllele": "C",
          "start": 43720864
        }
      ],
      "hgvs": [
        "NC_000006.10:g.43720865C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5121,
          "referenceAllele": "C",
          "start": 5120
        }
      ],
      "hgvs": [
        "NG_023436.1:g.5121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003866"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "ENST00000372163.5:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361236.4:p.Gln18Ter",
        "hgvsWellDefined": "ENSP00000361236.4:p.Gln18_Leu276delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValValGlnIleLysGluGluThrArgLeuValSerValIleAspGlnIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerTrpSerIleGlnMetGluArgGlyAsnAlaLeuValValLeuArgSerLeuLeuTrpProGlyLeuThrPheTyrHisAlaProArgThrLysAsnTyrGlyTyrValTyrValGlyThrGlyGluLysAsnMetAspLeuProPheMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750950",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372163.5:c.52C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152732.5:c.52C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361236.4:p.Gln18Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689945.2:p.Gln18Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "referenceAllele": "C",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "ENST00000372163.4:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361236.4:p.Gln18Ter",
        "hgvsWellDefined": "ENSP00000361236.4:p.Gln18_Leu276delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValValGlnIleLysGluGluThrArgLeuValSerValIleAspGlnIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerTrpSerIleGlnMetGluArgGlyAsnAlaLeuValValLeuArgSerLeuLeuTrpProGlyLeuThrPheTyrHisAlaProArgThrLysAsnTyrGlyTyrValTyrValGlyThrGlyGluLysAsnMetAspLeuProPheMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268949"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "referenceAllele": "C",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "ENST00000372165.8:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361238.4:p.Gln18Ter",
        "hgvsWellDefined": "ENSP00000361238.4:p.Gln18_Val306delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerGluAlaValValGlnGlyAspPheThrTrpLeuLeuSerArgCysGlyPheGlyTrpProCysSerTrpAspSerCysSerValSerMetArgValLeuGluHisProAspGlyGluGlyGlnCysProGlyGlyAlaAlaGlnProAlaLeuAlaGlyProHisLeuLeuProCysSerProHisGlnGluLeuTrpLeuArgLeuArgGlyHisTrpArgGluGluHisGlyLeuAlaLeuHisAlaIleGluTrpGluProAlaTrpMetPheLeuAsnArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268951"
    },
    {
      "@id": "http://reg.genome.network/allele/PA264808",
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NM_001193341.1:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180270.1:p.Gln18Ter",
        "hgvsWellDefined": "NP_001180270.1:p.Gln18_Val306delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerGluAlaValValGlnGlyAspPheThrTrpLeuLeuSerArgCysGlyPheGlyTrpProCysSerTrpAspSerCysSerValSerMetArgValLeuGluHisProAspGlyGluGlyGlnCysProGlyGlyAlaAlaGlnProAlaLeuAlaGlyProHisLeuLeuProCysSerProHisGlnGluLeuTrpLeuArgLeuArgGlyHisTrpArgGluGluHisGlyLeuAlaLeuHisAlaIleGluTrpGluProAlaTrpMetPheLeuAsnArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016361"
    },
    {
      "@id": "http://reg.genome.network/allele/PA264809",
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NM_152732.4:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689945.2:p.Gln18Ter",
        "hgvsWellDefined": "NP_689945.2:p.Gln18_Leu276delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValValGlnIleLysGluGluThrArgLeuValSerValIleAspGlnIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerTrpSerIleGlnMetGluArgGlyAsnAlaLeuValValLeuArgSerLeuLeuTrpProGlyLeuThrPheTyrHisAlaProArgThrLysAsnTyrGlyTyrValTyrValGlyThrGlyGluLysAsnMetAspLeuProPheMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042107"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XM_005248901.2:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248958.1:p.Gln18Ter",
        "hgvsWellDefined": "XP_005248958.1:p.Gln18_Val321delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValValGlnIleLysGluGluThrArgLeuValSerValIleAspGlnIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerGluAlaValValGlnGlyAspPheThrTrpLeuLeuSerArgCysGlyPheGlyTrpProCysSerTrpAspSerCysSerValSerMetArgValLeuGluHisProAspGlyGluGlyGlnCysProGlyGlyAlaAlaGlnProAlaLeuAlaGlyProHisLeuLeuProCysSerProHisGlnGluLeuTrpLeuArgLeuArgGlyHisTrpArgGluGluHisGlyLeuAlaLeuHisAlaIleGluTrpGluProAlaTrpMetPheLeuAsnArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XM_006715014.1:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006715077.1:p.Gln18Ter",
        "hgvsWellDefined": "XP_006715077.1:p.Gln18_Ser140delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrArgSerArgSerArgLysArgProAlaTrpCysLeuSerLeuThrArgLeuThrArgLeuTrpProSerSerProGluAlaProSerSerArgProLeuLeuAspProProMetSerIleGlyProLeuLysAspCysProCysLeuArgProArgSerSerAlaProThrSerIleSerGlySerLeuLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XM_011514356.1:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011512658.1:p.Gln18Ter",
        "hgvsWellDefined": "XP_011512658.1:p.Gln18_Phe241delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValValGlnIleLysGluGluThrArgLeuValSerValIleAspGlnIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysAspGluGluThrGlyAlaGlnArgValLysProLysAspThrPheProHisPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "referenceAllele": "C",
          "start": 86
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XR_926099.1:n.87C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XM_005248901.3:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248958.1:p.Gln18Ter",
        "hgvsWellDefined": "XP_005248958.1:p.Gln18_Val321delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValValGlnIleLysGluGluThrArgLeuValSerValIleAspGlnIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerGluAlaValValGlnGlyAspPheThrTrpLeuLeuSerArgCysGlyPheGlyTrpProCysSerTrpAspSerCysSerValSerMetArgValLeuGluHisProAspGlyGluGlyGlnCysProGlyGlyAlaAlaGlnProAlaLeuAlaGlyProHisLeuLeuProCysSerProHisGlnGluLeuTrpLeuArgLeuArgGlyHisTrpArgGluGluHisGlyLeuAlaLeuHisAlaIleGluTrpGluProAlaTrpMetPheLeuAsnArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XR_002956268.1:n.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "referenceAllele": "C",
          "start": 120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XR_002956269.1:n.121C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "XR_926099.2:n.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS608156"
    },
    {
      "@id": "http://reg.genome.network/allele/PA264809",
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NM_152732.5:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689945.2:p.Gln18Ter",
        "hgvsWellDefined": "NP_689945.2:p.Gln18_Leu276delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValValGlnIleLysGluGluThrArgLeuValSerValIleAspGlnIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerTrpSerIleGlnMetGluArgGlyAsnAlaLeuValValLeuArgSerLeuLeuTrpProGlyLeuThrPheTyrHisAlaProArgThrLysAsnTyrGlyTyrValTyrValGlyThrGlyGluLysAsnMetAspLeuProPheMetLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672436",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372163.5:c.52C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152732.5:c.52C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361236.4:p.Gln18Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689945.2:p.Gln18Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA264808",
      "coordinates": [
        {
          "allele": "T",
          "end": 115,
          "referenceAllele": "C",
          "start": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021057",
      "geneNCBI_id": 221421,
      "geneSymbol": "RSPH9",
      "hgvs": [
        "NM_001193341.2:c.52C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180270.1:p.Gln18Ter",
        "hgvsWellDefined": "NP_001180270.1:p.Gln18_Val306delinsGlyLeuSerProAspArgArgAlaSerLeuLeuThrSerLeuMetLeuValLysArgAspTyrArgTyrAspArgValLeuPheTrpGlyArgIleLeuGlyLeuValAlaAspTyrTyrIleAlaGlnGlyLeuSerGluAspGlnLeuAlaProArgLysThrLeuTyrSerLeuAsnCysThrGluTrpSerLeuLeuProProAlaThrGluGluMetValAlaGlnSerSerValValLysGlyArgPheMetGlyAspProSerTyrGluTyrGluHisThrGluLeuGlnLysValAsnGluGlyGluLysValPheGluGluGluIleValIleAspLysAlaValAlaIleIleProArgGlyAlaLeuPheLysThrProPheGlyProThrHisValAsnArgThrPheGluGlyLeuSerLeuSerGluAlaLysLysLeuSerSerTyrPheHisPheArgGluProValGluLeuLysAsnLysThrLeuLeuGluLysAlaAspLeuAspProSerLeuAspPheMetAspSerLeuGluHisAspIleProLysGlySerGluAlaValValGlnGlyAspPheThrTrpLeuLeuSerArgCysGlyPheGlyTrpProCysSerTrpAspSerCysSerValSerMetArgValLeuGluHisProAspGlyGluGlyGlnCysProGlyGlyAlaAlaGlnProAlaLeuAlaGlyProHisLeuLeuProCysSerProHisGlnGluLeuTrpLeuArgLeuArgGlyHisTrpArgGluGluHisGlyLeuAlaLeuHisAlaIleGluTrpGluProAlaTrpMetPheLeuAsnArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 115879,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 115878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020194",
      "geneNCBI_id": 9533,
      "geneSymbol": "POLR1C",
      "hgvs": [
        "NM_001318876.2:c.945+115879C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305805.1:n.945+115879C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717620"
    }
  ],
  "type": "nucleotide"
}