{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3137486",
  "communityStandardTitle": [
    "NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=890439[alleleid]",
        "alleleId": 890439,
        "preferredName": "NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/902344",
        "RCV": [
          "RCV001148830",
          "RCV003413954",
          "RCV002559430"
        ],
        "variationId": 902344
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-170398627-G-A",
        "id": "4-170398627-G-A",
        "variant": "4:170398627 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.170398627G>A?assembly=hg19",
        "id": "chr4:g.170398627G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.169477476G>A?assembly=hg38",
        "id": "chr4:g.169477476G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201726561",
        "rs": 201726561
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-170398627-G-A?dataset=gnomad_r2_1",
        "id": "4-170398627-G-A",
        "variant": "4:170398627 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-169477476-G-A?dataset=gnomad_r3",
        "id": "4-169477476-G-A",
        "variant": "4:169477476 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-169477476-G-A?dataset=gnomad_r4",
        "id": "4-169477476-G-A",
        "variant": "4:169477476 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 169477476,
          "referenceAllele": "G",
          "start": 169477475
        }
      ],
      "hgvs": [
        "NC_000004.12:g.169477476G>A",
        "CM000666.2:g.169477476G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 170398627,
          "referenceAllele": "G",
          "start": 170398626
        }
      ],
      "hgvs": [
        "NC_000004.11:g.170398627G>A",
        "CM000666.1:g.170398627G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 170635202,
          "referenceAllele": "G",
          "start": 170635201
        }
      ],
      "hgvs": [
        "NC_000004.10:g.170635202G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 140152,
          "referenceAllele": "C",
          "start": 140151
        }
      ],
      "hgvs": [
        "NG_027982.1:g.140152C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2570,
          "referenceAllele": "C",
          "start": 2569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000685111.1:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508844.1:p.Arg665Trp",
        "hgvsWellDefined": "ENSP00000508844.1:p.Arg665Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1459,
          "referenceAllele": "C",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000685677.1:n.1459C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2438,
          "referenceAllele": "C",
          "start": 2437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000686697.1:c.1855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508689.1:p.Arg619Trp",
        "hgvsWellDefined": "ENSP00000508689.1:p.Arg619Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2655,
          "referenceAllele": "C",
          "start": 2654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687054.1:n.2655C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3566,
          "referenceAllele": "C",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687528.1:c.*896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510228.1:n.*896C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2674,
          "referenceAllele": "C",
          "start": 2673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687643.1:c.2104C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509309.1:p.Arg702Trp",
        "hgvsWellDefined": "ENSP00000509309.1:p.Arg702Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 929,
          "referenceAllele": "C",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000688934.1:c.184C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510760.1:p.Arg62Trp",
        "hgvsWellDefined": "ENSP00000510760.1:p.Arg62Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1611,
          "referenceAllele": "C",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000690540.1:n.1611C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2695,
          "referenceAllele": "C",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000507142.6:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424757.2:p.Arg721Trp",
        "hgvsWellDefined": "ENSP00000424757.2:p.Arg721Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758106",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000507142.6:c.2161C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199397.3:c.2161C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424757.2:p.Arg721Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001186326.1:p.Arg721Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 289,
          "referenceAllele": "C",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000638824.1:n.289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2718,
          "referenceAllele": "C",
          "start": 2717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000439128.6:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408020.2:p.Arg693Trp",
        "hgvsWellDefined": "ENSP00000408020.2:p.Arg693Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2741,
          "referenceAllele": "C",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000507142.5:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424757.1:p.Arg721Trp",
        "hgvsWellDefined": "ENSP00000424757.1:p.Arg721Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2557,
          "referenceAllele": "C",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000510533.5:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427653.1:p.Arg649Trp",
        "hgvsWellDefined": "ENSP00000427653.1:p.Arg649Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2607,
          "referenceAllele": "C",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000511633.5:c.2029C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423332.1:p.Arg677Trp",
        "hgvsWellDefined": "ENSP00000423332.1:p.Arg677Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2448,
          "referenceAllele": "C",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000512193.5:c.1870C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424938.1:p.Arg624Trp",
        "hgvsWellDefined": "ENSP00000424938.1:p.Arg624Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826241898",
      "coordinates": [
        {
          "allele": "T",
          "end": 2739,
          "referenceAllele": "C",
          "start": 2738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199397.1:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186326.1:p.Arg721Trp",
        "hgvsWellDefined": "NP_001186326.1:p.Arg721Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242292",
      "coordinates": [
        {
          "allele": "T",
          "end": 2607,
          "referenceAllele": "C",
          "start": 2606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.1:c.2029C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Arg677Trp",
        "hgvsWellDefined": "NP_001186327.1:p.Arg677Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242699",
      "coordinates": [
        {
          "allele": "T",
          "end": 2448,
          "referenceAllele": "C",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.1:c.1870C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Arg624Trp",
        "hgvsWellDefined": "NP_001186328.1:p.Arg624Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243116",
      "coordinates": [
        {
          "allele": "T",
          "end": 2601,
          "referenceAllele": "C",
          "start": 2600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.1:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Arg649Trp",
        "hgvsWellDefined": "NP_001186329.1:p.Arg649Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727269",
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "referenceAllele": "C",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.2:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Arg693Trp",
        "hgvsWellDefined": "NP_036356.1:p.Arg693Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2741,
          "referenceAllele": "C",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_006714228.1:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714291.1:p.Arg721Trp",
        "hgvsWellDefined": "XP_006714291.1:p.Arg721Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_011532003.1:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530305.1:p.Arg693Trp",
        "hgvsWellDefined": "XP_011530305.1:p.Arg693Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2525,
          "referenceAllele": "C",
          "start": 2524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_011532004.1:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530306.1:p.Arg649Trp",
        "hgvsWellDefined": "XP_011530306.1:p.Arg649Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2643,
          "referenceAllele": "C",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008249.1:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863738.1:p.Arg514Trp",
        "hgvsWellDefined": "XP_016863738.1:p.Arg514Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2559,
          "referenceAllele": "C",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008251.1:c.1456C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863740.1:p.Arg486Trp",
        "hgvsWellDefined": "XP_016863740.1:p.Arg486Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2449,
          "referenceAllele": "C",
          "start": 2448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008252.2:c.1456C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863741.1:p.Arg486Trp",
        "hgvsWellDefined": "XP_016863741.1:p.Arg486Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2589,
          "referenceAllele": "C",
          "start": 2588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008253.1:c.1009C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863742.1:p.Arg337Trp",
        "hgvsWellDefined": "XP_016863742.1:p.Arg337Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008254.1:c.805C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863743.1:p.Arg269Trp",
        "hgvsWellDefined": "XP_016863743.1:p.Arg269Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "C",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_024454065.1:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309833.1:p.Arg514Trp",
        "hgvsWellDefined": "XP_024309833.1:p.Arg514Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2719,
          "endIntronDirection": "+",
          "endIntronOffset": 1927,
          "referenceAllele": "C",
          "start": 2719,
          "startIntronDirection": "+",
          "startIntronOffset": 1926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XR_001741233.1:n.2719+1927C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3437,
          "referenceAllele": "C",
          "start": 3436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XR_001741234.2:n.3437C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826241898",
      "coordinates": [
        {
          "allele": "T",
          "end": 2695,
          "referenceAllele": "C",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199397.3:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186326.1:p.Arg721Trp",
        "hgvsWellDefined": "NP_001186326.1:p.Arg721Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000507142.6:c.2161C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199397.3:c.2161C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424757.2:p.Arg721Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001186326.1:p.Arg721Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242292",
      "coordinates": [
        {
          "allele": "T",
          "end": 2563,
          "referenceAllele": "C",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.2:c.2029C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Arg677Trp",
        "hgvsWellDefined": "NP_001186327.1:p.Arg677Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242699",
      "coordinates": [
        {
          "allele": "T",
          "end": 2404,
          "referenceAllele": "C",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.2:c.1870C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Arg624Trp",
        "hgvsWellDefined": "NP_001186328.1:p.Arg624Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243116",
      "coordinates": [
        {
          "allele": "T",
          "end": 2557,
          "referenceAllele": "C",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.2:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Arg649Trp",
        "hgvsWellDefined": "NP_001186329.1:p.Arg649Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743399",
      "coordinates": [
        {
          "allele": "T",
          "end": 2773,
          "referenceAllele": "C",
          "start": 2772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374418.1:c.2161C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361347.1:p.Arg721Trp",
        "hgvsWellDefined": "NP_001361347.1:p.Arg721Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828511562",
      "coordinates": [
        {
          "allele": "T",
          "end": 2611,
          "referenceAllele": "C",
          "start": 2610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374419.1:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361348.1:p.Arg693Trp",
        "hgvsWellDefined": "NP_001361348.1:p.Arg693Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828511997",
      "coordinates": [
        {
          "allele": "T",
          "end": 2560,
          "referenceAllele": "C",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374420.1:c.2026C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361349.1:p.Arg676Trp",
        "hgvsWellDefined": "NP_001361349.1:p.Arg676Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828512403",
      "coordinates": [
        {
          "allele": "T",
          "end": 2389,
          "referenceAllele": "C",
          "start": 2388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374421.1:c.1855C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361350.1:p.Arg619Trp",
        "hgvsWellDefined": "NP_001361350.1:p.Arg619Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727269",
      "coordinates": [
        {
          "allele": "T",
          "end": 2689,
          "referenceAllele": "C",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.3:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Arg693Trp",
        "hgvsWellDefined": "NP_036356.1:p.Arg693Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2623,
          "referenceAllele": "C",
          "start": 2622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NR_164630.1:n.2623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242292",
      "coordinates": [
        {
          "allele": "T",
          "end": 2563,
          "referenceAllele": "C",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.3:c.2029C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Arg677Trp",
        "hgvsWellDefined": "NP_001186327.1:p.Arg677Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242699",
      "coordinates": [
        {
          "allele": "T",
          "end": 2404,
          "referenceAllele": "C",
          "start": 2403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.3:c.1870C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Arg624Trp",
        "hgvsWellDefined": "NP_001186328.1:p.Arg624Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243116",
      "coordinates": [
        {
          "allele": "T",
          "end": 2557,
          "referenceAllele": "C",
          "start": 2556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.3:c.1945C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Arg649Trp",
        "hgvsWellDefined": "NP_001186329.1:p.Arg649Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727269",
      "coordinates": [
        {
          "allele": "T",
          "end": 2689,
          "referenceAllele": "C",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.4:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Arg693Trp",
        "hgvsWellDefined": "NP_036356.1:p.Arg693Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727853"
    }
  ],
  "type": "nucleotide"
}