{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10611873",
  "communityStandardTitle": [
    "NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=283715[alleleid]",
        "alleleId": 283715,
        "preferredName": "NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/330736",
        "RCV": [
          "RCV000300890",
          "RCV000335771",
          "RCV000399200"
        ],
        "variationId": 330736
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.110922688G>A?assembly=hg19",
        "id": "chr2:g.110922688G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.110165111G>A?assembly=hg38",
        "id": "chr2:g.110165111G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886054755",
        "rs": 886054755
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-110165111-G-A?dataset=gnomad_r3",
        "id": "2-110165111-G-A",
        "variant": "2:110165111 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-110165111-G-A?dataset=gnomad_r4",
        "id": "2-110165111-G-A",
        "variant": "2:110165111 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 110165111,
          "referenceAllele": "G",
          "start": 110165110
        }
      ],
      "hgvs": [
        "NC_000002.12:g.110165111G>A",
        "CM000664.2:g.110165111G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 110922688,
          "referenceAllele": "G",
          "start": 110922687
        }
      ],
      "hgvs": [
        "NC_000002.11:g.110922688G>A",
        "CM000664.1:g.110922688G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 110279977,
          "referenceAllele": "G",
          "start": 110279976
        }
      ],
      "hgvs": [
        "NC_000002.10:g.110279977G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44952,
          "referenceAllele": "C",
          "start": 44951
        }
      ],
      "hgvs": [
        "NG_008287.1:g.44952C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000445609.7:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389879.3:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000445609.7:c.669C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128178.3:c.669C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389879.3:p.Gly223="
          },
          "RefSeq": {
            "hgvs": "NP_001121650.1:p.Gly223="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000674677.1:c.600C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502265.1:p.Gly200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675067.1:c.-1685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502817.1:n.-1685C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675356.1:n.708C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675752.1:n.702C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676028.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502639.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676053.1:c.483C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502475.1:p.Gly161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48,
          "referenceAllele": "C",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676091.1:c.48C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502528.1:p.Gly16="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 708,
          "referenceAllele": "C",
          "start": 707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676165.1:n.708C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "C",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676258.1:n.1760C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000316534.8:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313169.4:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000355301.8:c.483C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347452.4:p.Gly161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000393272.7:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376953.3:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 696,
          "referenceAllele": "C",
          "start": 695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000417665.5:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402176.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000445609.6:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389879.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000461707.5:n.702C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000496524.5:n.718C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825136569",
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "C",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.3:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665315",
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "C",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128178.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121650.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011740"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665717",
      "coordinates": [
        {
          "allele": "T",
          "end": 577,
          "referenceAllele": "C",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.1:c.483C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:p.Gly161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011741"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830528507",
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "C",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.2:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263675.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263732.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263676.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263733.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263677.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263734.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263678.2:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263735.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263679.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263736.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_006712551.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712614.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_006712552.2:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712615.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_011511244.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509546.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712,
          "referenceAllele": "C",
          "start": 711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_017004218.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859707.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559774"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825136569",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.4:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665315",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128178.3:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121650.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000445609.7:c.669C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128178.3:c.669C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389879.3:p.Gly223="
          },
          "RefSeq": {
            "hgvs": "NP_001121650.1:p.Gly223="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665717",
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.2:c.483C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:p.Gly161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828479693",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001374256.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361185.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828480636",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001374257.1:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361186.1:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693189"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830528507",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.3:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701742"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825136569",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.5:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825665717",
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "C",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.3:c.483C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:p.Gly161="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712246"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830528507",
      "coordinates": [
        {
          "allele": "T",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.4:c.669C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:p.Gly223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730119"
    }
  ],
  "type": "nucleotide"
}