{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA287533382",
  "communityStandardTitle": [
    "NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2114240[alleleid]",
        "alleleId": 2114240,
        "preferredName": "NM_025099.6(CTC1):c.2473G>C (p.Ala825Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2047297",
        "RCV": [
          "RCV002904198"
        ],
        "variationId": 2047297
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8135046C>G?assembly=hg19",
        "id": "chr17:g.8135046C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8231728C>G?assembly=hg38",
        "id": "chr17:g.8231728C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/915406565",
        "rs": 915406565
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8135046-C-G?dataset=gnomad_r2_1",
        "id": "17-8135046-C-G",
        "variant": "17:8135046 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8231728-C-G?dataset=gnomad_r4",
        "id": "17-8231728-C-G",
        "variant": "17:8231728 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 8231728,
          "referenceAllele": "C",
          "start": 8231727
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8231728C>G",
        "CM000679.2:g.8231728C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 8135046,
          "referenceAllele": "C",
          "start": 8135045
        }
      ],
      "hgvs": [
        "NC_000017.10:g.8135046C>G",
        "CM000679.1:g.8135046C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 8075771,
          "referenceAllele": "C",
          "start": 8075770
        }
      ],
      "hgvs": [
        "NC_000017.9:g.8075771C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21368,
          "referenceAllele": "G",
          "start": 21367
        }
      ],
      "hgvs": [
        "NG_032148.1:g.21368G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 21368,
          "referenceAllele": "G",
          "start": 21367
        }
      ],
      "hgvs": [
        "NG_032148.2:g.21368G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616334"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2495,
          "referenceAllele": "G",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000580299.2:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462607.2:p.Ala825Pro",
        "hgvsWellDefined": "ENSP00000462607.2:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906027"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2495,
          "referenceAllele": "G",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581729.2:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462720.2:p.Ala825Pro",
        "hgvsWellDefined": "ENSP00000462720.2:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2925,
          "referenceAllele": "G",
          "start": 2924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581967.2:n.2925G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906036"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3266,
          "referenceAllele": "G",
          "start": 3265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000583254.2:n.3266G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906041"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2314,
          "referenceAllele": "G",
          "start": 2313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699849.1:c.1576G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514647.1:p.Ala526Pro",
        "hgvsWellDefined": "ENSP00000514647.1:p.Ala526Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910721"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1736,
          "referenceAllele": "G",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699850.1:n.1736G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910722"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2495,
          "referenceAllele": "G",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699851.1:n.2495G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910723"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3019,
          "referenceAllele": "G",
          "start": 3018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699852.1:c.*1149G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514648.1:n.*1149G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2495,
          "referenceAllele": "G",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699853.1:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514649.1:p.Ala825Pro",
        "hgvsWellDefined": "ENSP00000514649.1:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2266,
          "referenceAllele": "G",
          "start": 2265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699854.1:n.2266G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910726"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2925,
          "referenceAllele": "G",
          "start": 2924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699855.1:n.2925G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910727"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2495,
          "referenceAllele": "G",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699856.1:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514650.1:p.Ala825Pro",
        "hgvsWellDefined": "ENSP00000514650.1:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2481,
          "referenceAllele": "G",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699857.1:n.2481G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910729"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2341,
          "referenceAllele": "G",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699858.1:c.*1086G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514651.1:n.*1086G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910730"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2364,
          "referenceAllele": "G",
          "start": 2363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699859.1:c.2344G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514652.1:p.Ala782Pro",
        "hgvsWellDefined": "ENSP00000514652.1:p.Ala782Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910731"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "G",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699860.1:n.579G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910732"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2495,
          "referenceAllele": "G",
          "start": 2494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699861.1:n.2495G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910733"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3433,
          "referenceAllele": "G",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699862.1:n.3433G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910734"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2374,
          "referenceAllele": "G",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.7:c.2368G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Ala790Pro",
        "hgvsWellDefined": "ENSP00000396018.2:p.Ala790Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756234"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2462,
          "referenceAllele": "G",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581671.2:n.2462G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2421,
          "referenceAllele": "G",
          "start": 2420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000643543.1:c.*1180G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494323.1:n.*1180G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767338"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2493,
          "referenceAllele": "G",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000651323.1:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498499.1:p.Ala825Pro",
        "hgvsWellDefined": "ENSP00000498499.1:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771599",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2473G>C"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2473G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Ala825Pro"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Ala825Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2481,
          "referenceAllele": "G",
          "start": 2480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000315684.12:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313759.8:p.Ala825Pro",
        "hgvsWellDefined": "ENSP00000313759.8:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2374,
          "referenceAllele": "G",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.6:c.2368G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Ala790Pro",
        "hgvsWellDefined": "ENSP00000396018.2:p.Ala790Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300236"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 701,
          "referenceAllele": "G",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578240.1:n.701G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "referenceAllele": "G",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578537.1:c.369G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385410"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580461081",
      "coordinates": [
        {
          "allele": "C",
          "end": 2532,
          "referenceAllele": "G",
          "start": 2531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.5:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Ala825Pro",
        "hgvsWellDefined": "NP_079375.3:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038199"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2427,
          "referenceAllele": "G",
          "start": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.1:n.2427G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2387,
          "referenceAllele": "G",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.2:c.2344G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Ala782Pro",
        "hgvsWellDefined": "XP_006721640.1:p.Ala782Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.2:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Ala825Pro",
        "hgvsWellDefined": "XP_006721641.1:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721579.2:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721642.1:p.Ala825Pro",
        "hgvsWellDefined": "XP_006721642.1:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2411,
          "referenceAllele": "G",
          "start": 2410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.1:c.2368G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Ala790Pro",
        "hgvsWellDefined": "XP_011522312.1:p.Ala790Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2281,
          "referenceAllele": "G",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.1:c.1576G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Ala526Pro",
        "hgvsWellDefined": "XP_011522313.1:p.Ala526Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.2:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118501"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.2:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429825.1:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580461081",
      "coordinates": [
        {
          "allele": "C",
          "end": 2493,
          "referenceAllele": "G",
          "start": 2492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.6:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Ala825Pro",
        "hgvsWellDefined": "NP_079375.3:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2473G>C"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2473G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Ala825Pro"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Ala825Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2387,
          "referenceAllele": "G",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.3:c.2344G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Ala782Pro",
        "hgvsWellDefined": "XP_006721640.1:p.Ala782Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540328"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.3:c.2473G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Ala825Pro",
        "hgvsWellDefined": "XP_006721641.1:p.Ala825Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540329"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2411,
          "referenceAllele": "G",
          "start": 2410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.2:c.2368G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Ala790Pro",
        "hgvsWellDefined": "XP_011522312.1:p.Ala790Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547284"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2281,
          "referenceAllele": "G",
          "start": 2280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.2:c.1576G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Ala526Pro",
        "hgvsWellDefined": "XP_011522313.1:p.Ala526Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547285"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2387,
          "referenceAllele": "G",
          "start": 2386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752639.1:n.2387G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752640.1:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752641.1:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752642.1:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2946,
          "referenceAllele": "G",
          "start": 2945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752643.1:n.2946G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599320"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_002958073.1:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604200"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.3:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2516,
          "referenceAllele": "G",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.3:n.2516G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2388,
          "referenceAllele": "G",
          "start": 2387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.2:n.2388G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702498"
    }
  ],
  "type": "nucleotide"
}