{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA122842",
  "communityStandardTitle": [
    "NM_000283.4(PDE6B):c.772C>A (p.His258Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28146[alleleid]",
        "alleleId": 28146,
        "preferredName": "NM_000283.4(PDE6B):c.772C>A (p.His258Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13107",
        "RCV": [
          "RCV000013986"
        ],
        "variationId": 13107
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.647701C>A?assembly=hg19",
        "id": "chr4:g.647701C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.653912C>A?assembly=hg38",
        "id": "chr4:g.653912C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918582",
        "rs": 121918582
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 653912,
          "referenceAllele": "C",
          "start": 653911
        }
      ],
      "hgvs": [
        "NC_000004.12:g.653912C>A",
        "CM000666.2:g.653912C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 647701,
          "referenceAllele": "C",
          "start": 647700
        }
      ],
      "hgvs": [
        "NC_000004.11:g.647701C>A",
        "CM000666.1:g.647701C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 637701,
          "referenceAllele": "C",
          "start": 637700
        }
      ],
      "hgvs": [
        "NC_000004.10:g.637701C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 33339,
          "referenceAllele": "C",
          "start": 33338
        }
      ],
      "hgvs": [
        "NG_009839.1:g.33339C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.6:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.His258Asn",
        "hgvsWellDefined": "ENSP00000420295.1:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757834",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.772C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.772C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.His258Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.His258Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "C",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000255622.10:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255622.6:p.His258Asn",
        "hgvsWellDefined": "ENSP00000255622.6:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 201,
          "referenceAllele": "C",
          "start": 200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000429163.6:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406334.2:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000465426.5:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418454.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS309033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 170,
          "referenceAllele": "C",
          "start": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000467152.1:n.170C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 223,
          "referenceAllele": "C",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000474251.5:n.223C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS315802"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000476034.5:n.342C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317185"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 165,
          "referenceAllele": "C",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000487902.5:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418256.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 475,
          "referenceAllele": "C",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000488061.5:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420228.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "referenceAllele": "C",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.5:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.His258Asn",
        "hgvsWellDefined": "ENSP00000420295.1:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA122843",
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.3:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.2:p.His258Asn",
        "hgvsWellDefined": "NP_000274.2:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006344"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915982611",
      "coordinates": [
        {
          "allele": "A",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.1:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.1:p.His258Asn",
        "hgvsWellDefined": "NP_001138763.1:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145292.1:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138764.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.1:c.991C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.His331Asn",
        "hgvsWellDefined": "XP_011511775.1:p.His331Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.1:c.991C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.His331Asn",
        "hgvsWellDefined": "XP_011511776.1:p.His331Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2197,
          "referenceAllele": "C",
          "start": 2196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.1:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.His258Asn",
        "hgvsWellDefined": "XP_011511777.1:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.1:c.991C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.His331Asn",
        "hgvsWellDefined": "XP_011511778.1:p.His331Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513477.1:c.-626C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511779.1:n.-626C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513478.1:c.-969C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511780.1:n.-969C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1074,
          "referenceAllele": "G",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040438",
      "geneNCBI_id": 101928521,
      "geneSymbol": "PDE6B-AS1",
      "hgvs": [
        "XR_246615.2:n.1074G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 925,
          "referenceAllele": "G",
          "start": 924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040438",
      "geneNCBI_id": 101928521,
      "geneSymbol": "PDE6B-AS1",
      "hgvs": [
        "XR_925030.1:n.925G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS122031"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.1:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519158"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.1:c.-269C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:n.-269C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.3:c.991C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.His331Asn",
        "hgvsWellDefined": "XP_011511775.1:p.His331Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.3:c.991C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.His331Asn",
        "hgvsWellDefined": "XP_011511776.1:p.His331Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2195,
          "referenceAllele": "C",
          "start": 2194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.2:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.His258Asn",
        "hgvsWellDefined": "XP_011511777.1:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.3:c.991C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.His331Asn",
        "hgvsWellDefined": "XP_011511778.1:p.His331Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 342,
          "referenceAllele": "C",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513478.2:c.-969C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511780.1:n.-969C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "referenceAllele": "C",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008284.1:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863773.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "C",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008285.1:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863774.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 186,
          "referenceAllele": "C",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008286.1:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863775.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1167,
          "referenceAllele": "G",
          "start": 1166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040438",
      "geneNCBI_id": 101928521,
      "geneSymbol": "PDE6B-AS1",
      "hgvs": [
        "XR_001741541.1:n.1167G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "G",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040438",
      "geneNCBI_id": 101928521,
      "geneSymbol": "PDE6B-AS1",
      "hgvs": [
        "XR_246615.3:n.1316G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.2:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.2:c.-269C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:n.-269C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139650",
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.4:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.3:p.His258Asn",
        "hgvsWellDefined": "NP_000274.3:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.772C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.772C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.His258Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.His258Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573066156",
      "coordinates": [
        {
          "allele": "A",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.2:c.772C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.2:p.His258Asn",
        "hgvsWellDefined": "NP_001138763.2:p.His258Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145292.2:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138764.2:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.3:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 204,
          "referenceAllele": "C",
          "start": 203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.3:c.-269C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:n.-269C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719480"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001379246.1:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366175.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "referenceAllele": "C",
          "start": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001379247.1:c.-66C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366176.1:n.-66C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721938"
    }
  ],
  "type": "nucleotide"
}