{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA242085",
  "communityStandardTitle": [
    "NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192770[alleleid]",
        "alleleId": 192770,
        "preferredName": "NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195609",
        "RCV": [
          "RCV000176217",
          "RCV001085756",
          "RCV004539632"
        ],
        "variationId": 195609
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-5934950-C-T",
        "id": "1-5934950-C-T",
        "variant": "1:5934950 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.5934950C>T?assembly=hg19",
        "id": "chr1:g.5934950C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.5874890C>T?assembly=hg38",
        "id": "chr1:g.5874890C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200166175",
        "rs": 200166175
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5934950-C-T?dataset=gnomad_r2_1",
        "id": "1-5934950-C-T",
        "variant": "1:5934950 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5874890-C-T?dataset=gnomad_r3",
        "id": "1-5874890-C-T",
        "variant": "1:5874890 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5874890-C-T?dataset=gnomad_r4",
        "id": "1-5874890-C-T",
        "variant": "1:5874890 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 5874890,
          "referenceAllele": "C",
          "start": 5874889
        }
      ],
      "hgvs": [
        "NC_000001.11:g.5874890C>T",
        "CM000663.2:g.5874890C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 5934950,
          "referenceAllele": "C",
          "start": 5934949
        }
      ],
      "hgvs": [
        "NC_000001.10:g.5934950C>T",
        "CM000663.1:g.5934950C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 5857537,
          "referenceAllele": "C",
          "start": 5857536
        }
      ],
      "hgvs": [
        "NC_000001.9:g.5857537C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 122582,
          "referenceAllele": "G",
          "start": 122581
        }
      ],
      "hgvs": [
        "NG_011724.2:g.122582G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001929"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3248,
          "referenceAllele": "G",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.9:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Asp1010Asn",
        "hgvsWellDefined": "ENSP00000367398.4:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.3028G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.3028G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Asp1010Asn"
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Asp1010Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3294,
          "referenceAllele": "G",
          "start": 3293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.8:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Asp1010Asn",
        "hgvsWellDefined": "ENSP00000367398.4:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2960,
          "referenceAllele": "G",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378169.7:c.*1929G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367411.3:n.*1929G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2760,
          "referenceAllele": "G",
          "start": 2759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000478423.6:n.2760G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3843,
          "referenceAllele": "G",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000489180.6:c.*839G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423747.1:n.*839G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826800521",
      "coordinates": [
        {
          "allele": "A",
          "end": 2986,
          "referenceAllele": "G",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:p.Asp497Asn",
        "hgvsWellDefined": "NP_001278522.1:p.Asp497Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017799",
      "coordinates": [
        {
          "allele": "A",
          "end": 2809,
          "referenceAllele": "G",
          "start": 2808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.1:c.1492G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:p.Asp498Asn",
        "hgvsWellDefined": "NP_001278523.1:p.Asp498Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA242086",
      "coordinates": [
        {
          "allele": "A",
          "end": 3296,
          "referenceAllele": "G",
          "start": 3295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.4:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Asp1010Asn",
        "hgvsWellDefined": "NP_055917.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033743"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3843,
          "referenceAllele": "G",
          "start": 3842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.1:n.3843G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055173"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3315,
          "referenceAllele": "G",
          "start": 3314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.2:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_006710626.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3525,
          "referenceAllele": "G",
          "start": 3524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710565.2:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710628.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_006710628.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068686"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3063,
          "referenceAllele": "G",
          "start": 3062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541213.1:c.3025G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539515.1:p.Asp1009Asn",
        "hgvsWellDefined": "XP_011539515.1:p.Asp1009Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108156"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3024,
          "referenceAllele": "G",
          "start": 3023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541214.1:c.2986G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539516.1:p.Asp996Asn",
        "hgvsWellDefined": "XP_011539516.1:p.Asp996Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108157"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2955,
          "referenceAllele": "G",
          "start": 2954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541215.1:c.2917G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539517.1:p.Asp973Asn",
        "hgvsWellDefined": "XP_011539517.1:p.Asp973Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3763,
          "referenceAllele": "G",
          "start": 3762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.1:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_011539518.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3627,
          "referenceAllele": "G",
          "start": 3626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.1:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_011539519.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3293,
          "referenceAllele": "G",
          "start": 3292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.1:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_011539520.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3468,
          "referenceAllele": "G",
          "start": 3467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541219.1:c.2974G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539521.1:p.Asp992Asn",
        "hgvsWellDefined": "XP_011539521.1:p.Asp992Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541220.1:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539522.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_011539522.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108163"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_946604.1:n.3066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3142,
          "referenceAllele": "G",
          "start": 3141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.3:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_006710626.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537815"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3770,
          "referenceAllele": "G",
          "start": 3769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.2:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_011539518.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3634,
          "referenceAllele": "G",
          "start": 3633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.2:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_011539519.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3303,
          "referenceAllele": "G",
          "start": 3302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.2:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_011539520.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3021,
          "referenceAllele": "G",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000996.1:c.2983G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856485.1:p.Asp995Asn",
        "hgvsWellDefined": "XP_016856485.1:p.Asp995Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3565,
          "referenceAllele": "G",
          "start": 3564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000997.1:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856486.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_016856486.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000998.1:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856487.1:p.Asp1010Asn",
        "hgvsWellDefined": "XP_016856487.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3061,
          "referenceAllele": "G",
          "start": 3060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000999.1:c.2500G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856488.1:p.Asp834Asn",
        "hgvsWellDefined": "XP_016856488.1:p.Asp834Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2889,
          "referenceAllele": "G",
          "start": 2888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001000.2:c.2500G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856489.1:p.Asp834Asn",
        "hgvsWellDefined": "XP_016856489.1:p.Asp834Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2333,
          "referenceAllele": "G",
          "start": 2332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001001.1:c.2230G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856490.1:p.Asp744Asn",
        "hgvsWellDefined": "XP_016856490.1:p.Asp744Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2124,
          "referenceAllele": "G",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001003.1:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856492.1:p.Asp497Asn",
        "hgvsWellDefined": "XP_016856492.1:p.Asp497Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737114.1:n.3066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3066,
          "referenceAllele": "G",
          "start": 3065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737115.1:n.3066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA242086",
      "coordinates": [
        {
          "allele": "A",
          "end": 3248,
          "referenceAllele": "G",
          "start": 3247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.5:c.3028G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Asp1010Asn",
        "hgvsWellDefined": "NP_055917.1:p.Asp1010Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668638",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.3028G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.3028G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Asp1010Asn"
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Asp1010Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826800521",
      "coordinates": [
        {
          "allele": "A",
          "end": 2938,
          "referenceAllele": "G",
          "start": 2937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.2:c.1489G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:p.Asp497Asn",
        "hgvsWellDefined": "NP_001278522.1:p.Asp497Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916017799",
      "coordinates": [
        {
          "allele": "A",
          "end": 2761,
          "referenceAllele": "G",
          "start": 2760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.2:c.1492G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:p.Asp498Asn",
        "hgvsWellDefined": "NP_001278523.1:p.Asp498Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3795,
          "referenceAllele": "G",
          "start": 3794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.2:n.3795G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703187"
    }
  ],
  "type": "nucleotide"
}