{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397692606",
  "communityStandardTitle": [
    "NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1056416[alleleid]",
        "alleleId": 1056416,
        "preferredName": "NM_004937.3(CTNS):c.809C>T (p.Ser270Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1067345",
        "RCV": [
          "RCV002550249"
        ],
        "variationId": 1067345
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3561426C>T?assembly=hg19",
        "id": "chr17:g.3561426C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3658132C>T?assembly=hg38",
        "id": "chr17:g.3658132C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2150925336",
        "rs": 2150925336
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3658132,
          "referenceAllele": "C",
          "start": 3658131
        }
      ],
      "hgvs": [
        "NC_000017.11:g.3658132C>T",
        "CM000679.2:g.3658132C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3561426,
          "referenceAllele": "C",
          "start": 3561425
        }
      ],
      "hgvs": [
        "NC_000017.10:g.3561426C>T",
        "CM000679.1:g.3561426C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3508175,
          "referenceAllele": "C",
          "start": 3508174
        }
      ],
      "hgvs": [
        "NC_000017.9:g.3508175C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26665,
          "referenceAllele": "C",
          "start": 26664
        }
      ],
      "hgvs": [
        "NG_012489.1:g.26665C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26665,
          "referenceAllele": "C",
          "start": 26664
        }
      ],
      "hgvs": [
        "NG_012489.2:g.26665C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000046640.9:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000046640.4:p.Ser270Phe",
        "hgvsWellDefined": "ENSP00000046640.4:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739992",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.809C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.809C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Ser270Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Ser270Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000381870.8:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371294.3:p.Ser270Phe",
        "hgvsWellDefined": "ENSP00000371294.3:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000488623.6:c.56C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501016.1:p.Ser19Phe",
        "hgvsWellDefined": "ENSP00000501016.1:p.Ser19Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 873,
          "referenceAllele": "C",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000574776.6:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461118.2:p.Ser123Phe",
        "hgvsWellDefined": "ENSP00000461118.2:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000673669.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501123.1:p.Ser123Phe",
        "hgvsWellDefined": "ENSP00000501123.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1283,
          "referenceAllele": "C",
          "start": 1282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000673965.1:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500995.1:p.Ser270Phe",
        "hgvsWellDefined": "ENSP00000500995.1:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000046640.7:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000046640.3:p.Ser270Phe",
        "hgvsWellDefined": "ENSP00000046640.3:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000381870.7:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371294.3:p.Ser270Phe",
        "hgvsWellDefined": "ENSP00000371294.3:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825348052",
      "coordinates": [
        {
          "allele": "T",
          "end": 1279,
          "referenceAllele": "C",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.2:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Ser270Phe",
        "hgvsWellDefined": "NP_001026851.2:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499269280",
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.2:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Ser270Phe",
        "hgvsWellDefined": "NP_004928.2:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_005256485.1:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256542.1:p.Ser270Phe",
        "hgvsWellDefined": "XP_005256542.1:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721463.1:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721526.1:p.Ser270Phe",
        "hgvsWellDefined": "XP_006721526.1:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721464.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721527.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_006721527.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523691.1:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521993.1:p.Ser270Phe",
        "hgvsWellDefined": "XP_011521993.1:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523692.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521994.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_011521994.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1402,
          "referenceAllele": "C",
          "start": 1401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XR_934003.1:n.1402C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1400,
          "referenceAllele": "C",
          "start": 1399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_005256485.3:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256542.1:p.Ser270Phe",
        "hgvsWellDefined": "XP_005256542.1:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721463.3:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721526.1:p.Ser270Phe",
        "hgvsWellDefined": "XP_006721526.1:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721464.2:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721527.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_006721527.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1201,
          "referenceAllele": "C",
          "start": 1200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523691.2:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521993.1:p.Ser270Phe",
        "hgvsWellDefined": "XP_011521993.1:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523692.2:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521994.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_011521994.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "referenceAllele": "C",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024254.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879743.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_016879743.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024255.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879744.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_016879744.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024256.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879745.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_016879745.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1238,
          "referenceAllele": "C",
          "start": 1237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024257.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879746.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_016879746.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024258.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879747.1:p.Ser123Phe",
        "hgvsWellDefined": "XP_016879747.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523128",
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374492.1:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361421.1:p.Ser270Phe",
        "hgvsWellDefined": "NP_001361421.1:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523363",
      "coordinates": [
        {
          "allele": "T",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374493.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361422.1:p.Ser123Phe",
        "hgvsWellDefined": "NP_001361422.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693299"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523601",
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374494.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361423.1:p.Ser123Phe",
        "hgvsWellDefined": "NP_001361423.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523837",
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374495.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361424.1:p.Ser123Phe",
        "hgvsWellDefined": "NP_001361424.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828524018",
      "coordinates": [
        {
          "allele": "T",
          "end": 945,
          "referenceAllele": "C",
          "start": 944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374496.1:c.368C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361425.1:p.Ser123Phe",
        "hgvsWellDefined": "NP_001361425.1:p.Ser123Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499269280",
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.3:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Ser270Phe",
        "hgvsWellDefined": "NP_004928.2:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.809C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.809C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Ser270Phe"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Ser270Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825348052",
      "coordinates": [
        {
          "allele": "T",
          "end": 1288,
          "referenceAllele": "C",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.3:c.809C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Ser270Phe",
        "hgvsWellDefined": "NP_001026851.2:p.Ser270Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711482"
    }
  ],
  "type": "nucleotide"
}