{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3137118",
  "communityStandardTitle": [
    "NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1523818[alleleid]",
        "alleleId": 1523818,
        "preferredName": "NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1635356",
        "RCV": [
          "RCV002135178",
          "RCV003408144"
        ],
        "variationId": 1635356
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-170321774-T-C",
        "id": "4-170321774-T-C",
        "variant": "4:170321774 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.170321774T>C?assembly=hg19",
        "id": "chr4:g.170321774T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.169400623T>C?assembly=hg38",
        "id": "chr4:g.169400623T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376870683",
        "rs": 376870683
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-170321774-T-C?dataset=gnomad_r2_1",
        "id": "4-170321774-T-C",
        "variant": "4:170321774 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-169400623-T-C?dataset=gnomad_r3",
        "id": "4-169400623-T-C",
        "variant": "4:169400623 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-169400623-T-C?dataset=gnomad_r4",
        "id": "4-169400623-T-C",
        "variant": "4:169400623 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 169400623,
          "referenceAllele": "T",
          "start": 169400622
        }
      ],
      "hgvs": [
        "NC_000004.12:g.169400623T>C",
        "CM000666.2:g.169400623T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 170321774,
          "referenceAllele": "T",
          "start": 170321773
        }
      ],
      "hgvs": [
        "NC_000004.11:g.170321774T>C",
        "CM000666.1:g.170321774T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "C",
          "end": 170558349,
          "referenceAllele": "T",
          "start": 170558348
        }
      ],
      "hgvs": [
        "NC_000004.10:g.170558349T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217005,
          "referenceAllele": "A",
          "start": 217004
        }
      ],
      "hgvs": [
        "NG_027982.1:g.217005A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004022"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4021,
          "referenceAllele": "A",
          "start": 4020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000685111.1:c.3444A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508844.1:p.Glu1148="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829888"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2910,
          "referenceAllele": "A",
          "start": 2909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000685677.1:n.2910A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830199"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3712,
          "referenceAllele": "A",
          "start": 3711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000686697.1:c.3129A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508689.1:p.Glu1043="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4106,
          "referenceAllele": "A",
          "start": 4105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687054.1:n.4106A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5017,
          "referenceAllele": "A",
          "start": 5016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687528.1:c.*2347A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510228.1:n.*2347A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4125,
          "referenceAllele": "A",
          "start": 4124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000687643.1:c.3555A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509309.1:p.Glu1185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831193"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2380,
          "referenceAllele": "A",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000688934.1:c.1635A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510760.1:p.Glu545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3062,
          "referenceAllele": "A",
          "start": 3061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000690540.1:n.3062A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832752"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4146,
          "referenceAllele": "A",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000507142.6:c.3612A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424757.2:p.Glu1204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758106",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000507142.6:c.3612A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001199397.3:c.3612A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424757.2:p.Glu1204="
          },
          "RefSeq": {
            "hgvs": "NP_001186326.1:p.Glu1204="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1740,
          "referenceAllele": "A",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000638824.1:n.1740A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4169,
          "referenceAllele": "A",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000439128.6:c.3528A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408020.2:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4192,
          "referenceAllele": "A",
          "start": 4191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000507142.5:c.3612A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424757.1:p.Glu1204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338506"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4008,
          "referenceAllele": "A",
          "start": 4007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000510533.5:c.3396A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000427653.1:p.Glu1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4058,
          "referenceAllele": "A",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000511633.5:c.3480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423332.1:p.Glu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3899,
          "referenceAllele": "A",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "ENST00000512193.5:c.3321A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424938.1:p.Glu1107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342283"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242025",
      "coordinates": [
        {
          "allele": "G",
          "end": 4190,
          "referenceAllele": "A",
          "start": 4189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199397.1:c.3612A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186326.1:p.Glu1204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017100"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242438",
      "coordinates": [
        {
          "allele": "G",
          "end": 4058,
          "referenceAllele": "A",
          "start": 4057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.1:c.3480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Glu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017101"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242849",
      "coordinates": [
        {
          "allele": "G",
          "end": 3899,
          "referenceAllele": "A",
          "start": 3898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.1:c.3321A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Glu1107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017102"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243266",
      "coordinates": [
        {
          "allele": "G",
          "end": 4052,
          "referenceAllele": "A",
          "start": 4051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.1:c.3396A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Glu1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS017103"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727415",
      "coordinates": [
        {
          "allele": "G",
          "end": 4184,
          "referenceAllele": "A",
          "start": 4183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.2:c.3528A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4015,
          "referenceAllele": "A",
          "start": 4014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_006714228.1:c.3435A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714291.1:p.Glu1145="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4108,
          "referenceAllele": "A",
          "start": 4107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_011532003.1:c.3528A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530305.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3976,
          "referenceAllele": "A",
          "start": 3975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_011532004.1:c.3396A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530306.1:p.Glu1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4094,
          "referenceAllele": "A",
          "start": 4093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008249.1:c.2991A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863738.1:p.Glu997="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4010,
          "referenceAllele": "A",
          "start": 4009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008251.1:c.2907A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863740.1:p.Glu969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562792"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3900,
          "referenceAllele": "A",
          "start": 3899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008252.2:c.2907A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863741.1:p.Glu969="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562793"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4040,
          "referenceAllele": "A",
          "start": 4039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008253.1:c.2460A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863742.1:p.Glu820="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3150,
          "referenceAllele": "A",
          "start": 3149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_017008254.1:c.2256A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863743.1:p.Glu752="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4137,
          "referenceAllele": "A",
          "start": 4136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XM_024454065.1:c.2991A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309833.1:p.Glu997="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587435"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3897,
          "referenceAllele": "A",
          "start": 3896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "XR_001741233.1:n.3897A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242025",
      "coordinates": [
        {
          "allele": "G",
          "end": 4146,
          "referenceAllele": "A",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199397.3:c.3612A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186326.1:p.Glu1204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000507142.6:c.3612A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001199397.3:c.3612A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000424757.2:p.Glu1204="
          },
          "RefSeq": {
            "hgvs": "NP_001186326.1:p.Glu1204="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242438",
      "coordinates": [
        {
          "allele": "G",
          "end": 4014,
          "referenceAllele": "A",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.2:c.3480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Glu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679560"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242849",
      "coordinates": [
        {
          "allele": "G",
          "end": 3855,
          "referenceAllele": "A",
          "start": 3854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.2:c.3321A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Glu1107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679561"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243266",
      "coordinates": [
        {
          "allele": "G",
          "end": 4008,
          "referenceAllele": "A",
          "start": 4007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.2:c.3396A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Glu1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828511292",
      "coordinates": [
        {
          "allele": "G",
          "end": 4224,
          "referenceAllele": "A",
          "start": 4223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374418.1:c.3612A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361347.1:p.Glu1204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693261"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828511716",
      "coordinates": [
        {
          "allele": "G",
          "end": 4062,
          "referenceAllele": "A",
          "start": 4061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374419.1:c.3528A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361348.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693262"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828512149",
      "coordinates": [
        {
          "allele": "G",
          "end": 4011,
          "referenceAllele": "A",
          "start": 4010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374420.1:c.3477A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361349.1:p.Glu1159="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693263"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828512528",
      "coordinates": [
        {
          "allele": "G",
          "end": 3663,
          "referenceAllele": "A",
          "start": 3662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001374421.1:c.3129A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361350.1:p.Glu1043="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693264"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727415",
      "coordinates": [
        {
          "allele": "G",
          "end": 4140,
          "referenceAllele": "A",
          "start": 4139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.3:c.3528A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4074,
          "referenceAllele": "A",
          "start": 4073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NR_164630.1:n.4074A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705747"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242438",
      "coordinates": [
        {
          "allele": "G",
          "end": 4014,
          "referenceAllele": "A",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199398.3:c.3480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186327.1:p.Glu1160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713980"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826242849",
      "coordinates": [
        {
          "allele": "G",
          "end": 3855,
          "referenceAllele": "A",
          "start": 3854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199399.3:c.3321A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186328.1:p.Glu1107="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713981"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826243266",
      "coordinates": [
        {
          "allele": "G",
          "end": 4008,
          "referenceAllele": "A",
          "start": 4007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_001199400.3:c.3396A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186329.1:p.Glu1132="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829727415",
      "coordinates": [
        {
          "allele": "G",
          "end": 4140,
          "referenceAllele": "A",
          "start": 4139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007744",
      "geneNCBI_id": 4750,
      "geneSymbol": "NEK1",
      "hgvs": [
        "NM_012224.4:c.3528A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036356.1:p.Glu1176="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727853"
    }
  ],
  "type": "nucleotide"
}