{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA348086755",
  "communityStandardTitle": [
    "NM_001128178.3(NPHP1):c.1716+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18546[alleleid]",
        "alleleId": 18546,
        "preferredName": "NM_001128178.3(NPHP1):c.1716+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3507",
        "RCV": [
          "RCV000003682",
          "RCV001851623",
          "RCV003466796"
        ],
        "variationId": 3507
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.110886762C>A?assembly=hg19",
        "id": "chr2:g.110886762C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.110129185C>A?assembly=hg38",
        "id": "chr2:g.110129185C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1233478832",
        "rs": 1233478832
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-110886762-C-A?dataset=gnomad_r2_1",
        "id": "2-110886762-C-A",
        "variant": "2:110886762 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-110129185-C-A?dataset=gnomad_r4",
        "id": "2-110129185-C-A",
        "variant": "2:110129185 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 110129185,
          "referenceAllele": "C",
          "start": 110129184
        }
      ],
      "hgvs": [
        "NC_000002.12:g.110129185C>A",
        "CM000664.2:g.110129185C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 110886762,
          "referenceAllele": "C",
          "start": 110886761
        }
      ],
      "hgvs": [
        "NC_000002.11:g.110886762C>A",
        "CM000664.1:g.110886762C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 110244051,
          "referenceAllele": "C",
          "start": 110244050
        }
      ],
      "hgvs": [
        "NC_000002.10:g.110244051C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 80878,
          "referenceAllele": "G",
          "start": 80877
        }
      ],
      "hgvs": [
        "NG_008287.1:g.80878G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001001"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1761,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000445609.7:c.1716+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389879.3:n.1716+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756051",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000445609.7:c.1716+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128178.3:c.1716+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389879.3:n.1716+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001121650.1:n.1716+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1761,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000674677.1:c.1761+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502265.1:n.1761+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774611"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3214,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3214,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675067.1:c.915+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502817.1:n.915+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4392,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 4392,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675294.1:n.4392+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2394,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2394,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675356.1:n.2394+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3120,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3120,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675632.1:n.3120+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775425"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3419,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3419,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000675752.1:n.3419+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1554,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1554,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676028.1:c.1533+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502639.1:n.1533+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1547,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676053.1:c.1527+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502475.1:n.1527+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 912,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 912,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676091.1:c.912+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502528.1:n.912+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3379,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3379,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676165.1:n.3379+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2807,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2807,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000676258.1:n.2807+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1958,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1958,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000316534.8:c.1884+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313169.4:n.1884+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1531,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000355301.8:c.1527+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347452.4:n.1527+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263397"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1979,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000393272.7:c.1881+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376953.3:n.1881+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1740,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1740,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000417665.5:c.1713+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402176.1:n.1713+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 74,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 74,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000422492.1:c.74+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS287304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1740,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1740,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000445609.6:c.1716+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389879.2:n.1716+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3301,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3301,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000461707.5:n.3301+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000493051.1:n.344G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4169,
          "referenceAllele": "G",
          "start": 4168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "ENST00000496524.5:n.4169G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1978,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1978,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.3:c.1884+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:n.1884+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1810,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1810,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128178.1:c.1716+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121650.1:n.1716+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1621,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1621,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.1:c.1527+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:n.1527+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1975,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1975,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.2:c.1881+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:n.1881+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1924,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1924,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263675.1:c.1881+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263732.1:n.1881+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1759,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263676.1:c.1716+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263733.1:n.1716+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1756,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263677.1:c.1713+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263734.1:n.1713+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1927,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1927,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263678.2:c.1884+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263735.1:n.1884+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1756,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1756,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_005263679.1:c.1713+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263736.1:n.1713+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1927,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1927,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_006712551.1:c.1884+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712614.1:n.1884+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1927,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1927,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_011511244.1:c.1884+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509546.1:n.1884+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1759,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1759,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "XM_017004218.1:c.1716+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859707.1:n.1716+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559774"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1929,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1929,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.4:c.1884+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:n.1884+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1761,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128178.3:c.1716+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121650.1:n.1716+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000445609.7:c.1716+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128178.3:c.1716+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389879.3:n.1716+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_001121650.1:n.1716+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1572,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.2:c.1527+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:n.1527+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676968"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1758,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1758,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001374256.1:c.1713+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361185.1:n.1713+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1761,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1761,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001374257.1:c.1716+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361186.1:n.1716+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1926,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.3:c.1881+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:n.1881+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701742"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1929,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1929,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_000272.5:c.1884+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000263.2:n.1884+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1572,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_001128179.3:c.1527+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121651.1:n.1527+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1926,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NM_207181.4:c.1881+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_997064.2:n.1881+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS730119"
    }
  ],
  "type": "nucleotide"
}