{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8372600",
  "communityStandardTitle": [
    "NM_025099.6(CTC1):c.615C>T (p.Tyr205=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=347857[alleleid]",
        "alleleId": 347857,
        "preferredName": "NM_025099.6(CTC1):c.615C>T (p.Tyr205=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/326084",
        "RCV": [
          "RCV000500419",
          "RCV000863925",
          "RCV003418032",
          "RCV001807232",
          "RCV003950112"
        ],
        "variationId": 326084
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-8141381-G-A",
        "id": "17-8141381-G-A",
        "variant": "17:8141381 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8141381G>A?assembly=hg19",
        "id": "chr17:g.8141381G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8238063G>A?assembly=hg38",
        "id": "chr17:g.8238063G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/571035242",
        "rs": 571035242
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8141381-G-A?dataset=gnomad_r2_1",
        "id": "17-8141381-G-A",
        "variant": "17:8141381 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8238063-G-A?dataset=gnomad_r3",
        "id": "17-8238063-G-A",
        "variant": "17:8238063 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8238063-G-A?dataset=gnomad_r4",
        "id": "17-8238063-G-A",
        "variant": "17:8238063 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8238063,
          "referenceAllele": "G",
          "start": 8238062
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8238063G>A",
        "CM000679.2:g.8238063G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8141381,
          "referenceAllele": "G",
          "start": 8141380
        }
      ],
      "hgvs": [
        "NC_000017.10:g.8141381G>A",
        "CM000679.1:g.8141381G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 8082106,
          "referenceAllele": "G",
          "start": 8082105
        }
      ],
      "hgvs": [
        "NC_000017.9:g.8082106G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15033,
          "referenceAllele": "C",
          "start": 15032
        }
      ],
      "hgvs": [
        "NG_032148.1:g.15033C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15033,
          "referenceAllele": "C",
          "start": 15032
        }
      ],
      "hgvs": [
        "NG_032148.2:g.15033C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616334"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000580299.2:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462607.2:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581729.2:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462720.2:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581967.2:n.637C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699849.1:c.-283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514647.1:n.-283C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 55,
          "endIntronDirection": "-",
          "endIntronOffset": 1720,
          "referenceAllele": "C",
          "start": 55,
          "startIntronDirection": "-",
          "startIntronOffset": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699850.1:n.56-1721C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699851.1:n.637C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699852.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514648.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699853.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514649.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 408,
          "referenceAllele": "C",
          "start": 407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699854.1:n.408C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699855.1:n.637C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699856.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514650.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699857.1:n.623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699858.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514651.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699859.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514652.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699861.1:n.637C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699862.1:n.502C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.7:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581671.2:n.456C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000643543.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494323.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000651323.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498499.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771599",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.615C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.615C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Tyr205="
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Tyr205="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000315684.12:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313759.8:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257118"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 621,
          "referenceAllele": "C",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.6:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581671.1:n.456C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS386900"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830052494",
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.5:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 674,
          "referenceAllele": "C",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.1:n.674C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.2:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.2:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721579.2:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721642.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.1:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 329,
          "referenceAllele": "C",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.1:c.-255+329C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:n.-255+329C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.2:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.2:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429825.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830052494",
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.6:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.615C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.615C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Tyr205="
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Tyr205="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.3:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.3:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.2:c.615C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Tyr205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 329,
          "referenceAllele": "C",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.2:c.-255+329C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:n.-255+329C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547285"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752639.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752640.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752641.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752642.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752643.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752644.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_002958073.1:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.3:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.3:n.658C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.2:n.635C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702498"
    }
  ],
  "type": "nucleotide"
}