{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397973179",
  "communityStandardTitle": [
    "NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=846604[alleleid]",
        "alleleId": 846604,
        "preferredName": "NM_025099.6(CTC1):c.2973T>G (p.Tyr991Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/844575",
        "RCV": [
          "RCV001047461"
        ],
        "variationId": 844575
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8133247A>C?assembly=hg19",
        "id": "chr17:g.8133247A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.8229929A>C?assembly=hg38",
        "id": "chr17:g.8229929A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62637613",
        "rs": 62637613
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8229929,
          "referenceAllele": "A",
          "start": 8229928
        }
      ],
      "hgvs": [
        "NC_000017.11:g.8229929A>C",
        "CM000679.2:g.8229929A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8133247,
          "referenceAllele": "A",
          "start": 8133246
        }
      ],
      "hgvs": [
        "NC_000017.10:g.8133247A>C",
        "CM000679.1:g.8133247A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 8073972,
          "referenceAllele": "A",
          "start": 8073971
        }
      ],
      "hgvs": [
        "NC_000017.9:g.8073972A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23167,
          "referenceAllele": "T",
          "start": 23166
        }
      ],
      "hgvs": [
        "NG_032148.1:g.23167T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005144"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 23167,
          "referenceAllele": "T",
          "start": 23166
        }
      ],
      "hgvs": [
        "NG_032148.2:g.23167T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616334"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "T",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000580299.2:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462607.2:p.Tyr991Ter",
        "hgvsWellDefined": "ENSP00000462607.2:p.Tyr991_Cys1129delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "T",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581729.2:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462720.2:p.Tyr991Ter",
        "hgvsWellDefined": "ENSP00000462720.2:p.Tyr991_Cys1140delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3425,
          "referenceAllele": "T",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581967.2:n.3425T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4971,
          "referenceAllele": "T",
          "start": 4970
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000583254.2:n.4971T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS906041"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2814,
          "referenceAllele": "T",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699849.1:c.2076T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514647.1:p.Tyr692Ter",
        "hgvsWellDefined": "ENSP00000514647.1:p.Tyr692_Cys841delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2561,
          "referenceAllele": "T",
          "start": 2560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699850.1:n.2561T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3320,
          "referenceAllele": "T",
          "start": 3319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699851.1:n.3320T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3421,
          "referenceAllele": "T",
          "start": 3420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699852.1:c.*1551T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514648.1:n.*1551T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910724"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "T",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699853.1:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514649.1:p.Tyr991Ter",
        "hgvsWellDefined": "ENSP00000514649.1:p.Tyr991_Pro1082delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleSerLeuGlnProGlyLeuThrSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3091,
          "referenceAllele": "T",
          "start": 3090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699854.1:n.3091T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910726"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3750,
          "referenceAllele": "T",
          "start": 3749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699855.1:n.3750T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2955,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 2955,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699856.1:c.2934-7T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514650.1:n.2934-7T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3208,
          "referenceAllele": "T",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699857.1:n.3208T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3166,
          "referenceAllele": "T",
          "start": 3165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699858.1:c.*1911T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514651.1:n.*1911T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2864,
          "referenceAllele": "T",
          "start": 2863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699859.1:c.2844T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514652.1:p.Tyr948Ter",
        "hgvsWellDefined": "ENSP00000514652.1:p.Tyr948_Leu1023delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1210,
          "referenceAllele": "T",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699860.1:n.1210T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2995,
          "referenceAllele": "T",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699861.1:n.2995T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4258,
          "referenceAllele": "T",
          "start": 4257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000699862.1:n.4258T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2874,
          "referenceAllele": "T",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.7:c.2868T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Tyr956Ter",
        "hgvsWellDefined": "ENSP00000396018.2:p.Tyr956_Leu1031delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756234"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2962,
          "referenceAllele": "T",
          "start": 2961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000581671.2:n.2962T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2921,
          "referenceAllele": "T",
          "start": 2920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000643543.1:c.*1680T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494323.1:n.*1680T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767338"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2993,
          "referenceAllele": "T",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000651323.1:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498499.1:p.Tyr991Ter",
        "hgvsWellDefined": "ENSP00000498499.1:p.Tyr991_Cys1217delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771599",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2973T>G"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2973T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Tyr991Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Tyr991Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2981,
          "referenceAllele": "T",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000315684.12:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313759.8:p.Tyr991Ter",
        "hgvsWellDefined": "ENSP00000313759.8:p.Tyr991_Cys1217delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2874,
          "referenceAllele": "T",
          "start": 2873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000449476.6:c.2868T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000396018.2:p.Tyr956Ter",
        "hgvsWellDefined": "ENSP00000396018.2:p.Tyr956_Leu1031delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnAlaProGlyGlyGlyTrpAspCysArgSerArgGlyAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300236"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1526,
          "referenceAllele": "T",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578240.1:n.1526T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385260"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 336,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 336,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578441.5:n.337-7T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 635,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000578537.1:c.636-7T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS385410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 144,
          "referenceAllele": "T",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "ENST00000580299.1:c.144T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462607.1:p.Tyr48Ter",
        "hgvsWellDefined": "ENSP00000462607.1:p.Tyr48_Val125del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS386272"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139755319",
      "coordinates": [
        {
          "allele": "G",
          "end": 3032,
          "referenceAllele": "T",
          "start": 3031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.5:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Tyr991Ter",
        "hgvsWellDefined": "NP_079375.3:p.Tyr991_Cys1217delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2927,
          "referenceAllele": "T",
          "start": 2926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.1:n.2927T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2887,
          "referenceAllele": "T",
          "start": 2886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.2:c.2844T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Tyr948Ter",
        "hgvsWellDefined": "XP_006721640.1:p.Tyr948_Cys1174delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3016,
          "referenceAllele": "T",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.2:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Tyr991Ter",
        "hgvsWellDefined": "XP_006721641.1:p.Tyr991_Cys1140delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2976,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 2976,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721579.2:c.2934-7T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721642.1:n.2934-7T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074143"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2911,
          "referenceAllele": "T",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.1:c.2868T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Tyr956Ter",
        "hgvsWellDefined": "XP_011522312.1:p.Tyr956_Cys1182delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2781,
          "referenceAllele": "T",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.1:c.2076T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Tyr692Ter",
        "hgvsWellDefined": "XP_011522313.1:p.Tyr692_Cys918delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3016,
          "referenceAllele": "T",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.2:n.3016T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3016,
          "referenceAllele": "T",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.2:n.3016T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2822,
          "referenceAllele": "T",
          "start": 2821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429825.1:n.2822T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139755319",
      "coordinates": [
        {
          "allele": "G",
          "end": 2993,
          "referenceAllele": "T",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NM_025099.6:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_079375.3:p.Tyr991Ter",
        "hgvsWellDefined": "NP_079375.3:p.Tyr991_Cys1217delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526212",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000651323.1:c.2973T>G"
          },
          "RefSeq": {
            "hgvs": "NM_025099.6:c.2973T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498499.1:p.Tyr991Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079375.3:p.Tyr991Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2887,
          "referenceAllele": "T",
          "start": 2886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721577.3:c.2844T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721640.1:p.Tyr948Ter",
        "hgvsWellDefined": "XP_006721640.1:p.Tyr948_Cys1174delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540328"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3016,
          "referenceAllele": "T",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_006721578.3:c.2973T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006721641.1:p.Tyr991Ter",
        "hgvsWellDefined": "XP_006721641.1:p.Tyr991_Cys1140delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2911,
          "referenceAllele": "T",
          "start": 2910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524010.2:c.2868T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522312.1:p.Tyr956Ter",
        "hgvsWellDefined": "XP_011522312.1:p.Tyr956_Cys1182delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2781,
          "referenceAllele": "T",
          "start": 2780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XM_011524011.2:c.2076T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522313.1:p.Tyr692Ter",
        "hgvsWellDefined": "XP_011522313.1:p.Tyr692_Cys918delinsValGlnValLeuSerPheProProGluThrThrIleSerIleProLeuProHisIleTyrLeuAlaGluLeuLeuGlnGlyGlyGlnSerProPheGlnAlaThrAlaSerCysHisIleValSerValPheSerLeuGlnLeuPheTrpValCysAlaTyrCysThrSerIleCysArgGlnGlyLysCysThrArgLeuGlySerThrCysProThrGlnThrAlaIleSerGlnAlaIleIleArgLeuLeuValGluAspGlyThrAlaGluAlaValValThrCysArgAsnHisHisValAlaAlaAlaLeuGlyLeuCysProArgGluTrpAlaSerLeuLeuAspPheValGlnValProGlyArgValValLeuGlnPheAlaGlyProGlyAlaGlnLeuGluSerSerAlaArgValAspGluProMetThrMetPheLeuTrpThrLeuCysThrSerProSerValLeuArgProIleValLeuSerPheGluLeuGluArgLysProSerLysIleValProLeuGluProProArgLeuGlnArgPheGlnCysGlyGluLeuProPheLeuThrHisValAsnProArgLeuArgLeuSerCysLeuSerIleArgGluSerGluTyrSerSerSerLeuGlyIleLeuAlaSerSerCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547285"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2887,
          "referenceAllele": "T",
          "start": 2886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752639.1:n.2887T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2976,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 2976,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752640.1:n.2977-7T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2976,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
          "referenceAllele": "T",
          "start": 2976,
          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752641.1:n.2977-7T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2822,
          "referenceAllele": "T",
          "start": 2821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752642.1:n.2822T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3446,
          "referenceAllele": "T",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_001752643.1:n.3446T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2822,
          "referenceAllele": "T",
          "start": 2821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_002958073.1:n.2822T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3016,
          "referenceAllele": "T",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429823.3:n.3016T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3016,
          "referenceAllele": "T",
          "start": 3015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "XR_429824.3:n.3016T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606714"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2888,
          "referenceAllele": "T",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026169",
      "geneNCBI_id": 80169,
      "geneSymbol": "CTC1",
      "hgvs": [
        "NR_046431.2:n.2888T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702498"
    }
  ],
  "type": "nucleotide"
}