{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1827390",
  "communityStandardTitle": [
    "NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=282230[alleleid]",
        "alleleId": 282230,
        "preferredName": "NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/330738",
        "RCV": [
          "RCV000267804",
          "RCV000315824",
          "RCV000378671",
          "RCV001487646"
        ],
        "variationId": 330738
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-110927449-T-C",
        "id": "2-110927449-T-C",
        "variant": "2:110927449 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.110927449T>C?assembly=hg19",
        "id": "chr2:g.110927449T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.110169872T>C?assembly=hg38",
        "id": "chr2:g.110169872T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143163969",
        "rs": 143163969
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-110927449-T-C?dataset=gnomad_r2_1",
        "id": "2-110927449-T-C",
        "variant": "2:110927449 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-110169872-T-C?dataset=gnomad_r3",
        "id": "2-110169872-T-C",
        "variant": "2:110169872 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-110169872-T-C?dataset=gnomad_r4",
        "id": "2-110169872-T-C",
        "variant": "2:110169872 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 110169872,
          "referenceAllele": "T",
          "start": 110169871
        }
      ],
      "hgvs": [
        "NC_000002.12:g.110169872T>C",
        "CM000664.2:g.110169872T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 110927449,
          "referenceAllele": "T",
          "start": 110927448
        }
      ],
      "hgvs": [
        "NC_000002.11:g.110927449T>C",
        "CM000664.1:g.110927449T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 110284738,
          "referenceAllele": "T",
          "start": 110284737
        }
      ],
      "hgvs": [
        "NC_000002.10:g.110284738T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 40191,
          "referenceAllele": "A",
          "start": 40190
        }
      ],
      "hgvs": [
        "NG_008287.1:g.40191A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000445609.7:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389879.3:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000445609.7:c.456A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001128178.3:c.456A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389879.3:p.Ser152="
          },
          "RefSeq": {
            "hgvs": "NP_001121650.1:p.Ser152="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 387,
          "referenceAllele": "A",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000674677.1:c.387A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502265.1:p.Ser129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 402,
          "referenceAllele": "A",
          "start": 401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675067.1:c.-1898A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502817.1:n.-1898A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675356.1:n.495A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775186"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "A",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675752.1:n.489A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 477,
          "referenceAllele": "A",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676028.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502639.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775768"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 290,
          "referenceAllele": "A",
          "start": 289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676053.1:c.270A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502475.1:p.Ser90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775791"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 495,
          "referenceAllele": "A",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676165.1:n.495A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775885"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "A",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676258.1:n.1547A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775968"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 530,
          "referenceAllele": "A",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000316534.8:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313169.4:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257243"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "referenceAllele": "A",
          "start": 273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000355301.8:c.270A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347452.4:p.Ser90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263397"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "A",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000393272.7:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376953.3:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "referenceAllele": "A",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000417665.5:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402176.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285029"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 480,
          "referenceAllele": "A",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000445609.6:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389879.2:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 489,
          "referenceAllele": "A",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000461707.5:n.489A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306157"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 505,
          "referenceAllele": "A",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000496524.5:n.505A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825136529",
      "coordinates": [
        {
          "allele": "G",
          "end": 550,
          "referenceAllele": "A",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.3:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665270",
      "coordinates": [
        {
          "allele": "G",
          "end": 550,
          "referenceAllele": "A",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128178.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121650.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665678",
      "coordinates": [
        {
          "allele": "G",
          "end": 364,
          "referenceAllele": "A",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.1:c.270A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:p.Ser90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830528470",
      "coordinates": [
        {
          "allele": "G",
          "end": 550,
          "referenceAllele": "A",
          "start": 549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.2:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263675.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263732.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263676.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263733.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263677.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263734.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263678.2:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263735.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263679.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263736.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_006712551.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712614.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_006712552.2:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712615.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_011511244.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509546.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 499,
          "referenceAllele": "A",
          "start": 498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_017004218.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859707.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825136529",
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.4:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665270",
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128178.3:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121650.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000445609.7:c.456A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001128178.3:c.456A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389879.3:p.Ser152="
          },
          "RefSeq": {
            "hgvs": "NP_001121650.1:p.Ser152="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665678",
      "coordinates": [
        {
          "allele": "G",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.2:c.270A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:p.Ser90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828479589",
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001374256.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361185.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828480538",
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001374257.1:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361186.1:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830528470",
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.3:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825136529",
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.5:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665678",
      "coordinates": [
        {
          "allele": "G",
          "end": 315,
          "referenceAllele": "A",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.3:c.270A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:p.Ser90="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830528470",
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.4:c.456A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:p.Ser152="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730119"
    }
  ],
  "type": "nucleotide"
}