{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273358",
  "communityStandardTitle": [
    "NM_000283.4(PDE6B):c.2193+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177924[alleleid]",
        "alleleId": 177924,
        "preferredName": "NM_000283.4(PDE6B):c.2193+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167440",
        "RCV": [
          "RCV000153667",
          "RCV000216602",
          "RCV001073971",
          "RCV000723948",
          "RCV002498731",
          "RCV003387510"
        ],
        "variationId": 167440
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-658734-G-A",
        "id": "4-658734-G-A",
        "variant": "4:658734 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.658734G>A?assembly=hg19",
        "id": "chr4:g.658734G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.664945G>A?assembly=hg38",
        "id": "chr4:g.664945G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727504075",
        "rs": 727504075
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-658734-G-A?dataset=gnomad_r2_1",
        "id": "4-658734-G-A",
        "variant": "4:658734 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-664945-G-A?dataset=gnomad_r3",
        "id": "4-664945-G-A",
        "variant": "4:664945 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-664945-G-A?dataset=gnomad_r4",
        "id": "4-664945-G-A",
        "variant": "4:664945 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 664945,
          "referenceAllele": "G",
          "start": 664944
        }
      ],
      "hgvs": [
        "NC_000004.12:g.664945G>A",
        "CM000666.2:g.664945G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 658734,
          "referenceAllele": "G",
          "start": 658733
        }
      ],
      "hgvs": [
        "NC_000004.11:g.658734G>A",
        "CM000666.1:g.658734G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 648734,
          "referenceAllele": "G",
          "start": 648733
        }
      ],
      "hgvs": [
        "NC_000004.10:g.648734G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44372,
          "referenceAllele": "G",
          "start": 44371
        }
      ],
      "hgvs": [
        "NG_009839.1:g.44372G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2247,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.6:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757834",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.2193+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.2193+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:n.2193+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:n.2193+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2236,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2236,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000255622.10:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255622.6:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1622,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1622,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000429163.6:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406334.2:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 35,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 35,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000461490.1:c.35+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 273,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 273,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000471824.6:c.273+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417852.2:n.273+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2214,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2214,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.5:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2246,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.3:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.2:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2246,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2246,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.1:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.1:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145292.1:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138764.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.1:c.2412+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:n.2412+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.1:c.2412+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:n.2412+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3618,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3618,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.1:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.1:c.2412+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:n.2412+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2365,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2365,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513477.1:c.1398+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511779.1:n.1398+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2432,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513478.1:c.1122+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511780.1:n.1122+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.1:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.1:c.1038+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:n.1038+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.3:c.2412+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:n.2412+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.3:c.2412+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:n.2412+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3616,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3616,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.2:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3781,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3781,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.3:c.2412+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:n.2412+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2432,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513478.2:c.1122+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511780.1:n.1122+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008284.1:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863773.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1778,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1778,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008285.1:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863774.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1607,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1607,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008286.1:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863775.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562822"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.2:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.2:c.1038+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:n.1038+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2247,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.4:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.3:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.2193+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.2193+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:n.2193+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:n.2193+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2247,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2247,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.2:c.2193+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.2:n.2193+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145292.2:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138764.2:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1625,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1625,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.3:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1510,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1510,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.3:c.1038+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:n.1038+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2084,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2084,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001379246.1:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366175.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1602,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1602,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001379247.1:c.1356+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366176.1:n.1356+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721938"
    }
  ],
  "type": "nucleotide"
}