{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204023",
  "communityStandardTitle": [
    "NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200887[alleleid]",
        "alleleId": 200887,
        "preferredName": "NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204500",
        "RCV": [
          "RCV000186569"
        ],
        "variationId": 204500
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.159401899G>A?assembly=hg19",
        "id": "chr6:g.159401899G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr6:g.158980867G>A?assembly=hg38",
        "id": "chr6:g.158980867G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052118",
        "rs": 796052118
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 158980867,
          "referenceAllele": "G",
          "start": 158980866
        }
      ],
      "hgvs": [
        "NC_000006.12:g.158980867G>A",
        "CM000668.2:g.158980867G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 159401899,
          "referenceAllele": "G",
          "start": 159401898
        }
      ],
      "hgvs": [
        "NC_000006.11:g.159401899G>A",
        "CM000668.1:g.159401899G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 159321887,
          "referenceAllele": "G",
          "start": 159321886
        }
      ],
      "hgvs": [
        "NC_000006.10:g.159321887G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24321,
          "referenceAllele": "C",
          "start": 24320
        }
      ],
      "hgvs": [
        "NG_051819.1:g.24321C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617072"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000367069.7:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356036.1:p.Arg256Ter",
        "hgvsWellDefined": "ENSP00000356036.1:p.Arg256_Ser418delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367069.7:c.766C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031924.8:c.766C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356036.1:p.Arg256Ter"
          },
          "RefSeq": {
            "hgvs": "NP_114130.4:p.Arg256Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000252655.1:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252655.1:p.Arg398Ter",
        "hgvsWellDefined": "ENSP00000252655.1:p.Arg398_Ser560delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000367069.6:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356036.1:p.Arg256Ter",
        "hgvsWellDefined": "ENSP00000356036.1:p.Arg256_Ser418delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "ENST00000449822.5:c.478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393195.1:p.Arg160Ter",
        "hgvsWellDefined": "ENSP00000393195.1:p.Arg160_Ser322delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300407"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204024",
      "coordinates": [
        {
          "allele": "T",
          "end": 1382,
          "referenceAllele": "C",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.4:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Arg398Ter",
        "hgvsWellDefined": "NP_114130.3:p.Arg398_Ser560delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "C",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_005267153.3:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267210.1:p.Arg302Ter",
        "hgvsWellDefined": "XP_005267210.1:p.Arg302_Ser464delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_245553.2:n.1648C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116990"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139727843",
      "coordinates": [
        {
          "allele": "T",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_001346418.1:c.904C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333347.1:p.Arg302Ter",
        "hgvsWellDefined": "NP_001333347.1:p.Arg302_Ser464delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204024",
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.5:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Arg398Ter",
        "hgvsWellDefined": "NP_114130.3:p.Arg398_Ser560delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NR_144434.1:n.1403C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_017011347.2:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866836.1:p.Arg126Ter",
        "hgvsWellDefined": "XP_016866836.1:p.Arg126_Ser288delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "referenceAllele": "C",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XM_024446566.1:c.376C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302334.1:p.Arg126Ter",
        "hgvsWellDefined": "XP_024302334.1:p.Arg126_Ser288delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743668.2:n.1642C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1642,
          "referenceAllele": "C",
          "start": 1641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743669.2:n.1642C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743670.2:n.1354C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "XR_001743671.2:n.848C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS592751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204024",
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.6:c.1192C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.3:p.Arg398Ter",
        "hgvsWellDefined": "NP_114130.3:p.Arg398_Ser560delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830069856",
      "coordinates": [
        {
          "allele": "T",
          "end": 1418,
          "referenceAllele": "C",
          "start": 1417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NM_031924.8:c.766C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_114130.4:p.Arg256Ter",
        "hgvsWellDefined": "NP_114130.4:p.Arg256_Ser418delinsAlaPheAlaGlnArgTyrLeuAlaAspLeuLeuProSerValPheGlySerLeuArgAspSerGlyTyrPheTyrAspProIleGluArgAspIleGluIleGlyPheLeuProTrpLeuMetAsnGluValGluLysThrMetGluTyrSerMetValGlyArgThrValLeuAspMetLeuIleArgGluValValGluLysArgLeuCysMetTyrGluHisGlyGluAspThrHisGlnSerProGluProGluAspGluProGlyGlyProGlyAlaMetThrGluSerLeuGluAlaSerGluPheLeuGluGlnSerMetSerGlnThrArgGluLeuLeuLeuAspGlyGlyTyrLeuGlnArgThrThrTyrAspArgArgSerSerGlnGluArgLysPheMetGluGluArgGluLeuLeuGlyGlnAspGluGluThrAlaMetArgLysSerLeuGlyGluGluGluLeuSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728784",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367069.7:c.766C>T"
          },
          "RefSeq": {
            "hgvs": "NM_031924.8:c.766C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356036.1:p.Arg256Ter"
          },
          "RefSeq": {
            "hgvs": "NP_114130.4:p.Arg256Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}