{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8292031",
  "communityStandardTitle": [
    "NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=978279",
        "active": true,
        "id": "COSM978279"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1153058",
        "active": true,
        "id": "COSM1153058"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=571093[alleleid]",
        "alleleId": 571093,
        "preferredName": "NM_004937.3(CTNS):c.1082C>T (p.Pro361Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/574468",
        "RCV": [
          "RCV001274187",
          "RCV002533448"
        ],
        "variationId": 574468
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-3563641-C-T",
        "id": "17-3563641-C-T",
        "variant": "17:3563641 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3563641C>T?assembly=hg19",
        "id": "chr17:g.3563641C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.3660347C>T?assembly=hg38",
        "id": "chr17:g.3660347C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/560868487",
        "rs": 560868487
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-3563641-C-T?dataset=gnomad_r2_1",
        "id": "17-3563641-C-T",
        "variant": "17:3563641 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-3660347-C-T?dataset=gnomad_r3",
        "id": "17-3660347-C-T",
        "variant": "17:3660347 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-3660347-C-T?dataset=gnomad_r4",
        "id": "17-3660347-C-T",
        "variant": "17:3660347 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3660347,
          "referenceAllele": "C",
          "start": 3660346
        }
      ],
      "hgvs": [
        "NC_000017.11:g.3660347C>T",
        "CM000679.2:g.3660347C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3563641,
          "referenceAllele": "C",
          "start": 3563640
        }
      ],
      "hgvs": [
        "NC_000017.10:g.3563641C>T",
        "CM000679.1:g.3563641C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 3510390,
          "referenceAllele": "C",
          "start": 3510389
        }
      ],
      "hgvs": [
        "NC_000017.9:g.3510390C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28880,
          "referenceAllele": "C",
          "start": 28879
        }
      ],
      "hgvs": [
        "NG_012489.1:g.28880C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28880,
          "referenceAllele": "C",
          "start": 28879
        }
      ],
      "hgvs": [
        "NG_012489.2:g.28880C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673597"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000046640.9:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000046640.4:p.Pro361Leu",
        "hgvsWellDefined": "ENSP00000046640.4:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739992",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.1082C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.1082C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Pro361Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Pro361Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000381870.8:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371294.3:p.Pro361Leu",
        "hgvsWellDefined": "ENSP00000371294.3:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000488623.6:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501016.1:p.Pro110Leu",
        "hgvsWellDefined": "ENSP00000501016.1:p.Pro110Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000574776.6:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461118.2:p.Pro214Leu",
        "hgvsWellDefined": "ENSP00000461118.2:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000673669.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501123.1:p.Pro214Leu",
        "hgvsWellDefined": "ENSP00000501123.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1556,
          "referenceAllele": "C",
          "start": 1555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000673965.1:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500995.1:p.Pro361Leu",
        "hgvsWellDefined": "ENSP00000500995.1:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000046640.7:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000046640.3:p.Pro361Leu",
        "hgvsWellDefined": "ENSP00000046640.3:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "ENST00000381870.7:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371294.3:p.Pro361Leu",
        "hgvsWellDefined": "ENSP00000371294.3:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273532"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825348197",
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.2:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Pro361Leu",
        "hgvsWellDefined": "NP_001026851.2:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848098",
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.2:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Pro361Leu",
        "hgvsWellDefined": "NP_004928.2:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1675,
          "referenceAllele": "C",
          "start": 1674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_005256485.1:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256542.1:p.Pro361Leu",
        "hgvsWellDefined": "XP_005256542.1:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721463.1:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721526.1:p.Pro361Leu",
        "hgvsWellDefined": "XP_006721526.1:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721464.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721527.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_006721527.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523691.1:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521993.1:p.Pro361Leu",
        "hgvsWellDefined": "XP_011521993.1:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523692.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521994.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_011521994.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_005256485.3:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256542.1:p.Pro361Leu",
        "hgvsWellDefined": "XP_005256542.1:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721463.3:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721526.1:p.Pro361Leu",
        "hgvsWellDefined": "XP_006721526.1:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_006721464.2:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721527.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_006721527.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523691.2:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521993.1:p.Pro361Leu",
        "hgvsWellDefined": "XP_011521993.1:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_011523692.2:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521994.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_011521994.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024254.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879743.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_016879743.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024255.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879744.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_016879744.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574854"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024256.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879745.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_016879745.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024257.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879746.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_016879746.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "XM_017024258.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879747.1:p.Pro214Leu",
        "hgvsWellDefined": "XP_016879747.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523230",
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374492.1:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361421.1:p.Pro361Leu",
        "hgvsWellDefined": "NP_001361421.1:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523465",
      "coordinates": [
        {
          "allele": "T",
          "end": 1298,
          "referenceAllele": "C",
          "start": 1297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374493.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361422.1:p.Pro214Leu",
        "hgvsWellDefined": "NP_001361422.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693299"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523701",
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374494.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361423.1:p.Pro214Leu",
        "hgvsWellDefined": "NP_001361423.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693300"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828523939",
      "coordinates": [
        {
          "allele": "T",
          "end": 1219,
          "referenceAllele": "C",
          "start": 1218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374495.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361424.1:p.Pro214Leu",
        "hgvsWellDefined": "NP_001361424.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693301"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828524118",
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001374496.1:c.641C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361425.1:p.Pro214Leu",
        "hgvsWellDefined": "NP_001361425.1:p.Pro214Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693302"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891848098",
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_004937.3:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004928.2:p.Pro361Leu",
        "hgvsWellDefined": "NP_004928.2:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000046640.9:c.1082C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004937.3:c.1082C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000046640.4:p.Pro361Leu"
          },
          "RefSeq": {
            "hgvs": "NP_004928.2:p.Pro361Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825348197",
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002518",
      "geneNCBI_id": 1497,
      "geneSymbol": "CTNS",
      "hgvs": [
        "NM_001031681.3:c.1082C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001026851.2:p.Pro361Leu",
        "hgvsWellDefined": "NP_001026851.2:p.Pro361Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711482"
    }
  ],
  "type": "nucleotide"
}