{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3137285",
  "communityStandardTitle": [
    "NM_001199397.3(NEK1):c.2888C>T (p.Ser963Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5351076",
        "active": true,
        "id": "COSM5351076"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2698108[alleleid]",
        "alleleId": 2698108,
        "preferredName": "NM_001199397.3(NEK1):c.2888C>T (p.Ser963Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2526925",
        "RCV": [
          "RCV003420636",
          "RCV003285294"
        ],
        "variationId": 2526925
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-170347383-G-A",
        "id": "4-170347383-G-A",
        "variant": "4:170347383 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.170347383G>A?assembly=hg19",
        "id": "chr4:g.170347383G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.169426232G>A?assembly=hg38",
        "id": "chr4:g.169426232G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755190149",
        "rs": 755190149
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-170347383-G-A?dataset=gnomad_r2_1",
        "id": "4-170347383-G-A",
        "variant": "4:170347383 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-169426232-G-A?dataset=gnomad_r3",
        "id": "4-169426232-G-A",
        "variant": "4:169426232 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-169426232-G-A?dataset=gnomad_r4",
        "id": "4-169426232-G-A",
        "variant": "4:169426232 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 169426232,
          "referenceAllele": "G",
          "start": 169426231
        }
      ],
      "hgvs": [
        "NC_000004.12:g.169426232G>A",
        "CM000666.2:g.169426232G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 170347383,
          "referenceAllele": "G",
          "start": 170347382
        }
      ],
      "hgvs": [
        "NC_000004.11:g.170347383G>A",
        "CM000666.1:g.170347383G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 170583958,
          "referenceAllele": "G",
          "start": 170583957
        }
      ],
      "hgvs": [
        "NC_000004.10:g.170583958G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 191396,
          "referenceAllele": "C",
          "start": 191395
        }
      ],
      "hgvs": [
        "NG_027982.1:g.191396C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3297,
          "referenceAllele": "C",
          "start": 3296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000685111.1:c.2720C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508844.1:p.Ser907Leu",
        "hgvsWellDefined": "ENSP00000508844.1:p.Ser907Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2186,
          "referenceAllele": "C",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000685677.1:n.2186C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2988,
          "referenceAllele": "C",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000686697.1:c.2405C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508689.1:p.Ser802Leu",
        "hgvsWellDefined": "ENSP00000508689.1:p.Ser802Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3382,
          "referenceAllele": "C",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687054.1:n.3382C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4293,
          "referenceAllele": "C",
          "start": 4292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687528.1:c.*1623C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510228.1:n.*1623C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3401,
          "referenceAllele": "C",
          "start": 3400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687643.1:c.2831C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509309.1:p.Ser944Leu",
        "hgvsWellDefined": "ENSP00000509309.1:p.Ser944Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000688934.1:c.911C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510760.1:p.Ser304Leu",
        "hgvsWellDefined": "ENSP00000510760.1:p.Ser304Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000690540.1:n.2338C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3422,
          "referenceAllele": "C",
          "start": 3421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000507142.6:c.2888C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424757.2:p.Ser963Leu",
        "hgvsWellDefined": "ENSP00000424757.2:p.Ser963Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758106",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000507142.6:c.2888C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199397.3:c.2888C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424757.2:p.Ser963Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001186326.1:p.Ser963Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1016,
          "referenceAllele": "C",
          "start": 1015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000638824.1:n.1016C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3445,
          "referenceAllele": "C",
          "start": 3444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000439128.6:c.2804C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408020.2:p.Ser935Leu",
        "hgvsWellDefined": "ENSP00000408020.2:p.Ser935Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3468,
          "referenceAllele": "C",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000507142.5:c.2888C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424757.1:p.Ser963Leu",
        "hgvsWellDefined": "ENSP00000424757.1:p.Ser963Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3284,
          "referenceAllele": "C",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000510533.5:c.2672C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427653.1:p.Ser891Leu",
        "hgvsWellDefined": "ENSP00000427653.1:p.Ser891Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3334,
          "referenceAllele": "C",
          "start": 3333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000511633.5:c.2756C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423332.1:p.Ser919Leu",
        "hgvsWellDefined": "ENSP00000423332.1:p.Ser919Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341855"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3175,
          "referenceAllele": "C",
          "start": 3174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000512193.5:c.2597C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424938.1:p.Ser866Leu",
        "hgvsWellDefined": "ENSP00000424938.1:p.Ser866Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826241954",
      "coordinates": [
        {
          "allele": "T",
          "end": 3466,
          "referenceAllele": "C",
          "start": 3465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199397.1:c.2888C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186326.1:p.Ser963Leu",
        "hgvsWellDefined": "NP_001186326.1:p.Ser963Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242364",
      "coordinates": [
        {
          "allele": "T",
          "end": 3334,
          "referenceAllele": "C",
          "start": 3333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.1:c.2756C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Ser919Leu",
        "hgvsWellDefined": "NP_001186327.1:p.Ser919Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242772",
      "coordinates": [
        {
          "allele": "T",
          "end": 3175,
          "referenceAllele": "C",
          "start": 3174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.1:c.2597C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Ser866Leu",
        "hgvsWellDefined": "NP_001186328.1:p.Ser866Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243192",
      "coordinates": [
        {
          "allele": "T",
          "end": 3328,
          "referenceAllele": "C",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.1:c.2672C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Ser891Leu",
        "hgvsWellDefined": "NP_001186329.1:p.Ser891Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727339",
      "coordinates": [
        {
          "allele": "T",
          "end": 3460,
          "referenceAllele": "C",
          "start": 3459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.2:c.2804C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Ser935Leu",
        "hgvsWellDefined": "NP_036356.1:p.Ser935Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3291,
          "referenceAllele": "C",
          "start": 3290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_006714228.1:c.2711C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714291.1:p.Ser904Leu",
        "hgvsWellDefined": "XP_006714291.1:p.Ser904Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3384,
          "referenceAllele": "C",
          "start": 3383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_011532003.1:c.2804C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530305.1:p.Ser935Leu",
        "hgvsWellDefined": "XP_011530305.1:p.Ser935Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3252,
          "referenceAllele": "C",
          "start": 3251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_011532004.1:c.2672C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530306.1:p.Ser891Leu",
        "hgvsWellDefined": "XP_011530306.1:p.Ser891Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3370,
          "referenceAllele": "C",
          "start": 3369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008249.1:c.2267C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863738.1:p.Ser756Leu",
        "hgvsWellDefined": "XP_016863738.1:p.Ser756Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3286,
          "referenceAllele": "C",
          "start": 3285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008251.1:c.2183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863740.1:p.Ser728Leu",
        "hgvsWellDefined": "XP_016863740.1:p.Ser728Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3176,
          "referenceAllele": "C",
          "start": 3175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008252.2:c.2183C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863741.1:p.Ser728Leu",
        "hgvsWellDefined": "XP_016863741.1:p.Ser728Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3316,
          "referenceAllele": "C",
          "start": 3315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008253.1:c.1736C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863742.1:p.Ser579Leu",
        "hgvsWellDefined": "XP_016863742.1:p.Ser579Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2426,
          "referenceAllele": "C",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008254.1:c.1532C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863743.1:p.Ser511Leu",
        "hgvsWellDefined": "XP_016863743.1:p.Ser511Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3413,
          "referenceAllele": "C",
          "start": 3412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_024454065.1:c.2267C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309833.1:p.Ser756Leu",
        "hgvsWellDefined": "XP_024309833.1:p.Ser756Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3173,
          "referenceAllele": "C",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XR_001741233.1:n.3173C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826241954",
      "coordinates": [
        {
          "allele": "T",
          "end": 3422,
          "referenceAllele": "C",
          "start": 3421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199397.3:c.2888C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186326.1:p.Ser963Leu",
        "hgvsWellDefined": "NP_001186326.1:p.Ser963Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000507142.6:c.2888C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001199397.3:c.2888C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424757.2:p.Ser963Leu"
          },
          "RefSeq": {
            "hgvs": "NP_001186326.1:p.Ser963Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242364",
      "coordinates": [
        {
          "allele": "T",
          "end": 3290,
          "referenceAllele": "C",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.2:c.2756C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Ser919Leu",
        "hgvsWellDefined": "NP_001186327.1:p.Ser919Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242772",
      "coordinates": [
        {
          "allele": "T",
          "end": 3131,
          "referenceAllele": "C",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.2:c.2597C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Ser866Leu",
        "hgvsWellDefined": "NP_001186328.1:p.Ser866Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243192",
      "coordinates": [
        {
          "allele": "T",
          "end": 3284,
          "referenceAllele": "C",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.2:c.2672C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Ser891Leu",
        "hgvsWellDefined": "NP_001186329.1:p.Ser891Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741870811",
      "coordinates": [
        {
          "allele": "T",
          "end": 3500,
          "referenceAllele": "C",
          "start": 3499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374418.1:c.2888C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361347.1:p.Ser963Leu",
        "hgvsWellDefined": "NP_001361347.1:p.Ser963Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828511636",
      "coordinates": [
        {
          "allele": "T",
          "end": 3338,
          "referenceAllele": "C",
          "start": 3337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374419.1:c.2804C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361348.1:p.Ser935Leu",
        "hgvsWellDefined": "NP_001361348.1:p.Ser935Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828512070",
      "coordinates": [
        {
          "allele": "T",
          "end": 3287,
          "referenceAllele": "C",
          "start": 3286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374420.1:c.2753C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361349.1:p.Ser918Leu",
        "hgvsWellDefined": "NP_001361349.1:p.Ser918Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828512466",
      "coordinates": [
        {
          "allele": "T",
          "end": 2939,
          "referenceAllele": "C",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374421.1:c.2405C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361350.1:p.Ser802Leu",
        "hgvsWellDefined": "NP_001361350.1:p.Ser802Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727339",
      "coordinates": [
        {
          "allele": "T",
          "end": 3416,
          "referenceAllele": "C",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.3:c.2804C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Ser935Leu",
        "hgvsWellDefined": "NP_036356.1:p.Ser935Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3350,
          "referenceAllele": "C",
          "start": 3349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NR_164630.1:n.3350C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242364",
      "coordinates": [
        {
          "allele": "T",
          "end": 3290,
          "referenceAllele": "C",
          "start": 3289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.3:c.2756C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Ser919Leu",
        "hgvsWellDefined": "NP_001186327.1:p.Ser919Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242772",
      "coordinates": [
        {
          "allele": "T",
          "end": 3131,
          "referenceAllele": "C",
          "start": 3130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.3:c.2597C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Ser866Leu",
        "hgvsWellDefined": "NP_001186328.1:p.Ser866Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243192",
      "coordinates": [
        {
          "allele": "T",
          "end": 3284,
          "referenceAllele": "C",
          "start": 3283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.3:c.2672C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Ser891Leu",
        "hgvsWellDefined": "NP_001186329.1:p.Ser891Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727339",
      "coordinates": [
        {
          "allele": "T",
          "end": 3416,
          "referenceAllele": "C",
          "start": 3415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.4:c.2804C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Ser935Leu",
        "hgvsWellDefined": "NP_036356.1:p.Ser935Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727853"
    }
  ],
  "type": "nucleotide"
}