{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA240913",
  "communityStandardTitle": [
    "NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191928[alleleid]",
        "alleleId": 191928,
        "preferredName": "NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194765",
        "RCV": [
          "RCV000724060",
          "RCV000986226",
          "RCV001100471",
          "RCV001088494",
          "RCV004537377"
        ],
        "variationId": 194765
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-5951029-G-A",
        "id": "1-5951029-G-A",
        "variant": "1:5951029 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.5951029G>A?assembly=hg19",
        "id": "chr1:g.5951029G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.5890969G>A?assembly=hg38",
        "id": "chr1:g.5890969G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/191913664",
        "rs": 191913664
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5951029-G-A?dataset=gnomad_r2_1",
        "id": "1-5951029-G-A",
        "variant": "1:5951029 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5890969-G-A?dataset=gnomad_r3",
        "id": "1-5890969-G-A",
        "variant": "1:5890969 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5890969-G-A?dataset=gnomad_r4",
        "id": "1-5890969-G-A",
        "variant": "1:5890969 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 5890969,
          "referenceAllele": "G",
          "start": 5890968
        }
      ],
      "hgvs": [
        "NC_000001.11:g.5890969G>A",
        "CM000663.2:g.5890969G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 5951029,
          "referenceAllele": "G",
          "start": 5951028
        }
      ],
      "hgvs": [
        "NC_000001.10:g.5951029G>A",
        "CM000663.1:g.5951029G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 5873616,
          "referenceAllele": "G",
          "start": 5873615
        }
      ],
      "hgvs": [
        "NC_000001.9:g.5873616G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 106503,
          "referenceAllele": "C",
          "start": 106502
        }
      ],
      "hgvs": [
        "NG_011724.2:g.106503C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001929"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2423,
          "referenceAllele": "C",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.9:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Arg735Trp",
        "hgvsWellDefined": "ENSP00000367398.4:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.2203C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.2203C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Arg735Trp"
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Arg735Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2469,
          "referenceAllele": "C",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.8:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Arg735Trp",
        "hgvsWellDefined": "ENSP00000367398.4:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2135,
          "referenceAllele": "C",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378169.7:c.*1104C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367411.3:n.*1104C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 281,
          "referenceAllele": "C",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000466897.1:c.281C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1935,
          "referenceAllele": "C",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000478423.6:n.1935C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "referenceAllele": "C",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000489180.6:c.2200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423747.1:p.Arg734Trp",
        "hgvsWellDefined": "ENSP00000423747.1:p.Arg734Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327298"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "referenceAllele": "C",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000622020.4:c.2200C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481831.2:p.Arg734Trp",
        "hgvsWellDefined": "ENSP00000481831.2:p.Arg734Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826800269",
      "coordinates": [
        {
          "allele": "T",
          "end": 2161,
          "referenceAllele": "C",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:p.Arg222Trp",
        "hgvsWellDefined": "NP_001278522.1:p.Arg222Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826801042",
      "coordinates": [
        {
          "allele": "T",
          "end": 1984,
          "referenceAllele": "C",
          "start": 1983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.1:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:p.Arg223Trp",
        "hgvsWellDefined": "NP_001278523.1:p.Arg223Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097075",
      "coordinates": [
        {
          "allele": "T",
          "end": 2471,
          "referenceAllele": "C",
          "start": 2470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.4:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Arg735Trp",
        "hgvsWellDefined": "NP_055917.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "referenceAllele": "C",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.1:n.2468C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2490,
          "referenceAllele": "C",
          "start": 2489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.2:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_006710626.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2700,
          "referenceAllele": "C",
          "start": 2699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710565.2:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710628.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_006710628.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2238,
          "referenceAllele": "C",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541213.1:c.2200C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539515.1:p.Arg734Trp",
        "hgvsWellDefined": "XP_011539515.1:p.Arg734Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541214.1:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539516.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_011539516.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2130,
          "referenceAllele": "C",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541215.1:c.2092C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539517.1:p.Arg698Trp",
        "hgvsWellDefined": "XP_011539517.1:p.Arg698Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2938,
          "referenceAllele": "C",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.1:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_011539518.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2802,
          "referenceAllele": "C",
          "start": 2801
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.1:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_011539519.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2468,
          "referenceAllele": "C",
          "start": 2467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.1:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_011539520.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2643,
          "referenceAllele": "C",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541219.1:c.2149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539521.1:p.Arg717Trp",
        "hgvsWellDefined": "XP_011539521.1:p.Arg717Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541220.1:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539522.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_011539522.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_946604.1:n.2241C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2181,
          "endIntronDirection": "-",
          "endIntronOffset": 3502,
          "referenceAllele": "C",
          "start": 2181,
          "startIntronDirection": "-",
          "startIntronOffset": 3503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_946605.1:n.2182-3503C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2317,
          "referenceAllele": "C",
          "start": 2316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.3:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_006710626.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2945,
          "referenceAllele": "C",
          "start": 2944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.2:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_011539518.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2809,
          "referenceAllele": "C",
          "start": 2808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.2:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_011539519.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "referenceAllele": "C",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.2:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_011539520.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2238,
          "referenceAllele": "C",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000996.1:c.2200C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856485.1:p.Arg734Trp",
        "hgvsWellDefined": "XP_016856485.1:p.Arg734Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2740,
          "referenceAllele": "C",
          "start": 2739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000997.1:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856486.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_016856486.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000998.1:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856487.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_016856487.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2236,
          "referenceAllele": "C",
          "start": 2235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000999.1:c.1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856488.1:p.Arg559Trp",
        "hgvsWellDefined": "XP_016856488.1:p.Arg559Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2064,
          "referenceAllele": "C",
          "start": 2063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001000.2:c.1675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856489.1:p.Arg559Trp",
        "hgvsWellDefined": "XP_016856489.1:p.Arg559Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1508,
          "referenceAllele": "C",
          "start": 1507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001001.1:c.1405C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856490.1:p.Arg469Trp",
        "hgvsWellDefined": "XP_016856490.1:p.Arg469Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001002.1:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856491.1:p.Arg735Trp",
        "hgvsWellDefined": "XP_016856491.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "referenceAllele": "C",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001003.1:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856492.1:p.Arg222Trp",
        "hgvsWellDefined": "XP_016856492.1:p.Arg222Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737114.1:n.2241C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737115.1:n.2241C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA097075",
      "coordinates": [
        {
          "allele": "T",
          "end": 2423,
          "referenceAllele": "C",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.5:c.2203C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Arg735Trp",
        "hgvsWellDefined": "NP_055917.1:p.Arg735Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668638",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.2203C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.2203C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Arg735Trp"
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Arg735Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826800269",
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.2:c.664C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:p.Arg222Trp",
        "hgvsWellDefined": "NP_001278522.1:p.Arg222Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826801042",
      "coordinates": [
        {
          "allele": "T",
          "end": 1936,
          "referenceAllele": "C",
          "start": 1935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.2:c.667C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:p.Arg223Trp",
        "hgvsWellDefined": "NP_001278523.1:p.Arg223Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2420,
          "referenceAllele": "C",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.2:n.2420C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703187"
    }
  ],
  "type": "nucleotide"
}