{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA414890035",
  "communityStandardTitle": [
    "NM_001363.5(DKC1):c.487A>G (p.Ile163Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1014847[alleleid]",
        "alleleId": 1014847,
        "preferredName": "NM_001363.5(DKC1):c.487A>G (p.Ile163Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1016074",
        "RCV": [
          "RCV001315023"
        ],
        "variationId": 1016074
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.153995310A>G?assembly=hg19",
        "id": "chrX:g.153995310A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.154767035A>G?assembly=hg38",
        "id": "chrX:g.154767035A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/782159247",
        "rs": 782159247
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-153995310-A-G?dataset=gnomad_r2_1",
        "id": "X-153995310-A-G",
        "variant": "X:153995310 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154767035-A-G?dataset=gnomad_r3",
        "id": "X-154767035-A-G",
        "variant": "X:154767035 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-154767035-A-G?dataset=gnomad_r4",
        "id": "X-154767035-A-G",
        "variant": "X:154767035 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 154767035,
          "referenceAllele": "A",
          "start": 154767034
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154767035A>G",
        "CM000685.2:g.154767035A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153995310,
          "referenceAllele": "A",
          "start": 153995309
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153995310A>G",
        "CM000685.1:g.153995310A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 153648504,
          "referenceAllele": "A",
          "start": 153648503
        }
      ],
      "hgvs": [
        "NC_000023.9:g.153648504A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9280,
          "referenceAllele": "A",
          "start": 9279
        }
      ],
      "hgvs": [
        "NG_009780.1:g.9280A>G",
        "LRG_55:g.9280A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001637"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "A",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000413910.6:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400542.2:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000400542.2:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 658,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000426673.6:c.449-221A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407253.3:n.449-221A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904805"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "A",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696575.1:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512730.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000512730.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696576.1:n.589A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696577.1:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512731.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000512731.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696578.1:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512732.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000512732.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908024"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696579.1:n.589A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908025"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "referenceAllele": "A",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696580.1:c.400A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512733.1:p.Ile134Val",
        "hgvsWellDefined": "ENSP00000512733.1:p.Ile134Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "referenceAllele": "A",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696581.1:c.*461A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512734.1:n.*461A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696582.1:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512735.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000512735.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "referenceAllele": "A",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696583.1:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512736.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000512736.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1011,
          "referenceAllele": "A",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696584.1:n.1011A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908030"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1130,
          "referenceAllele": "A",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696585.1:n.1130A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 534,
          "referenceAllele": "A",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696586.1:n.534A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "endIntronDirection": "-",
          "endIntronOffset": 275,
          "referenceAllele": "A",
          "start": 463,
          "startIntronDirection": "-",
          "startIntronOffset": 276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696587.1:c.449-276A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512737.1:n.449-276A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "A",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696588.1:c.-123A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513251.1:n.-123A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 540,
          "referenceAllele": "A",
          "start": 539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696627.1:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512764.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000512764.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000696628.1:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512765.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000512765.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908074"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000369550.10:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358563.5:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000358563.5:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750430",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369550.10:c.487A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001363.5:c.487A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358563.5:p.Ile163Val"
          },
          "RefSeq": {
            "hgvs": "NP_001354.1:p.Ile163Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "A",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000369550.9:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358563.5:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000358563.5:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20,
          "referenceAllele": "A",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000412124.5:c.20A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS282470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "A",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000413910.5:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400542.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000400542.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 443,
          "referenceAllele": "A",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000437719.5:c.443A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 406,
          "endIntronDirection": "-",
          "endIntronOffset": 220,
          "referenceAllele": "A",
          "start": 406,
          "startIntronDirection": "-",
          "startIntronOffset": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000452771.5:c.407-221A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407325.1:n.407-221A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "referenceAllele": "A",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "ENST00000620277.4:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478387.1:p.Ile163Val",
        "hgvsWellDefined": "ENSP00000478387.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404758"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793625",
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "referenceAllele": "A",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001142463.2:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135935.1:p.Ile163Val",
        "hgvsWellDefined": "NP_001135935.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826720161",
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "referenceAllele": "A",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001288747.1:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275676.1:p.Ile163Val",
        "hgvsWellDefined": "NP_001275676.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023580"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499253831",
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "referenceAllele": "A",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001363.4:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354.1:p.Ile163Val",
        "hgvsWellDefined": "NP_001354.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026753"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "A",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110021.1:n.1188A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054309"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1307,
          "referenceAllele": "A",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110022.1:n.1307A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054310"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 711,
          "referenceAllele": "A",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110023.1:n.711A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS054311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499253831",
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001363.5:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001354.1:p.Ile163Val",
        "hgvsWellDefined": "NP_001354.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000369550.10:c.487A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001363.5:c.487A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000358563.5:p.Ile163Val"
          },
          "RefSeq": {
            "hgvs": "NP_001354.1:p.Ile163Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825793625",
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001142463.3:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135935.1:p.Ile163Val",
        "hgvsWellDefined": "NP_001135935.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677534"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1066,
          "referenceAllele": "A",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110021.2:n.1066A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703098"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1185,
          "referenceAllele": "A",
          "start": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110022.2:n.1185A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703099"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NR_110023.2:n.589A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826720161",
      "coordinates": [
        {
          "allele": "G",
          "end": 589,
          "referenceAllele": "A",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002890",
      "geneNCBI_id": 1736,
      "geneSymbol": "DKC1",
      "hgvs": [
        "NM_001288747.2:c.487A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275676.1:p.Ile163Val",
        "hgvsWellDefined": "NP_001275676.1:p.Ile163Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716472"
    }
  ],
  "type": "nucleotide"
}