{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10566951",
  "communityStandardTitle": [
    "NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=472108[alleleid]",
        "alleleId": 472108,
        "preferredName": "NM_001363.5(DKC1):c.20T>C (p.Ile7Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/459584",
        "RCV": [
          "RCV001078718",
          "RCV000733974"
        ],
        "variationId": 459584
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-153993177-T-C",
        "id": "X-153993177-T-C",
        "variant": "X:153993177 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153993177T>C?assembly=hg19",
        "id": "chrX:g.153993177T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154764902T>C?assembly=hg38",
        "id": "chrX:g.154764902T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782343800",
        "rs": 782343800
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153993177-T-C?dataset=gnomad_r2_1",
        "id": "X-153993177-T-C",
        "variant": "X:153993177 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154764902-T-C?dataset=gnomad_r4",
        "id": "X-154764902-T-C",
        "variant": "X:154764902 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154764902,
          "referenceAllele": "T",
          "start": 154764901
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154764902T>C",
        "CM000685.2:g.154764902T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153993177,
          "referenceAllele": "T",
          "start": 153993176
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153993177T>C",
        "CM000685.1:g.153993177T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153646371,
          "referenceAllele": "T",
          "start": 153646370
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153646371T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7147,
          "referenceAllele": "T",
          "start": 7146
        }
      ],
      "hgvs": [
        "NG_009780.1:g.7147T>C",
        "LRG_55:g.7147T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001637"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "T",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000413910.6:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400542.2:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000400542.2:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "T",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000426673.6:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407253.3:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000407253.3:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 133,
          "referenceAllele": "T",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696575.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512730.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512730.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696576.1:n.122T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696577.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512731.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512731.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908023"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696578.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512732.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512732.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908024"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696579.1:n.122T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908025"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 118,
          "referenceAllele": "T",
          "start": 117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696580.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512733.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512733.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908026"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 107,
          "referenceAllele": "T",
          "start": 106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696581.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512734.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512734.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908027"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105,
          "referenceAllele": "T",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696582.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512735.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512735.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 105,
          "referenceAllele": "T",
          "start": 104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696583.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512736.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512736.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908029"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "T",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696584.1:n.67T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908030"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "T",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696585.1:n.67T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 67,
          "referenceAllele": "T",
          "start": 66
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696586.1:n.67T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 35,
          "referenceAllele": "T",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696587.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512737.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512737.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 664,
          "referenceAllele": "T",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696588.1:c.-1067T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513251.1:n.-1067T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696627.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512764.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512764.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908073"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71,
          "referenceAllele": "T",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696628.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512765.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000512765.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908074"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000369550.10:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358563.5:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000358563.5:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369550.10:c.20T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001363.5:c.20T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358563.5:p.Ile7Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001354.1:p.Ile7Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 230,
          "referenceAllele": "T",
          "start": 229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000369550.9:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358563.5:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000358563.5:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267573"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 95,
          "referenceAllele": "T",
          "start": 94
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000413910.5:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400542.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000400542.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283291"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 73,
          "referenceAllele": "T",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000473552.1:n.73T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315269"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 134,
          "referenceAllele": "T",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000475423.1:n.134T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316705"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "T",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000620277.4:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478387.1:p.Ile7Thr",
        "hgvsWellDefined": "ENSP00000478387.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793461",
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "T",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001142463.2:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135935.1:p.Ile7Thr",
        "hgvsWellDefined": "NP_001135935.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826719939",
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "T",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001288747.1:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275676.1:p.Ile7Thr",
        "hgvsWellDefined": "NP_001275676.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658660222",
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "T",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001363.4:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354.1:p.Ile7Thr",
        "hgvsWellDefined": "NP_001354.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "T",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110021.1:n.244T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054309"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "T",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110022.1:n.244T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054310"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "T",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110023.1:n.244T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658660222",
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001363.5:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354.1:p.Ile7Thr",
        "hgvsWellDefined": "NP_001354.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369550.10:c.20T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001363.5:c.20T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358563.5:p.Ile7Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001354.1:p.Ile7Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793461",
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001142463.3:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135935.1:p.Ile7Thr",
        "hgvsWellDefined": "NP_001135935.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677534"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110021.2:n.122T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703098"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110022.2:n.122T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110023.2:n.122T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826719939",
      "coordinates": [
        {
          "allele": "C",
          "end": 122,
          "referenceAllele": "T",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001288747.2:c.20T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275676.1:p.Ile7Thr",
        "hgvsWellDefined": "NP_001275676.1:p.Ile7Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716472"
    }
  ],
  "type": "nucleotide"
}