{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2794445",
  "communityStandardTitle": [
    "NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=293971[alleleid]",
        "alleleId": 293971,
        "preferredName": "NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349375",
        "RCV": [
          "RCV000267066",
          "RCV000361712",
          "RCV001861237",
          "RCV003243107"
        ],
        "variationId": 349375
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-651179-G-A",
        "id": "4-651179-G-A",
        "variant": "4:651179 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.651179G>A?assembly=hg19",
        "id": "chr4:g.651179G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.657390G>A?assembly=hg38",
        "id": "chr4:g.657390G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/539768252",
        "rs": 539768252
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-651179-G-A?dataset=gnomad_r2_1",
        "id": "4-651179-G-A",
        "variant": "4:651179 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-657390-G-A?dataset=gnomad_r3",
        "id": "4-657390-G-A",
        "variant": "4:657390 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-657390-G-A?dataset=gnomad_r4",
        "id": "4-657390-G-A",
        "variant": "4:657390 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 657390,
          "referenceAllele": "G",
          "start": 657389
        }
      ],
      "hgvs": [
        "NC_000004.12:g.657390G>A",
        "CM000666.2:g.657390G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 651179,
          "referenceAllele": "G",
          "start": 651178
        }
      ],
      "hgvs": [
        "NC_000004.11:g.651179G>A",
        "CM000666.1:g.651179G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 641179,
          "referenceAllele": "G",
          "start": 641178
        }
      ],
      "hgvs": [
        "NC_000004.10:g.641179G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36817,
          "referenceAllele": "G",
          "start": 36816
        }
      ],
      "hgvs": [
        "NG_009839.1:g.36817G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.6:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.Asp433Asn",
        "hgvsWellDefined": "ENSP00000420295.1:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757834",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.1297G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.1297G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Asp433Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.Asp433Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000255622.10:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255622.6:p.Asp433Asn",
        "hgvsWellDefined": "ENSP00000255622.6:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 726,
          "referenceAllele": "G",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000429163.6:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406334.2:p.Asp154Asn",
        "hgvsWellDefined": "ENSP00000406334.2:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290537"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.5:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.Asp433Asn",
        "hgvsWellDefined": "ENSP00000420295.1:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332956"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645494852",
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.3:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.2:p.Asp433Asn",
        "hgvsWellDefined": "NP_000274.2:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.1:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.1:p.Asp433Asn",
        "hgvsWellDefined": "NP_001138763.1:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145292.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138764.1:p.Asp154Asn",
        "hgvsWellDefined": "NP_001138764.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013567"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.1:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.Asp506Asn",
        "hgvsWellDefined": "XP_011511775.1:p.Asp506Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.1:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.Asp506Asn",
        "hgvsWellDefined": "XP_011511776.1:p.Asp506Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2722,
          "referenceAllele": "G",
          "start": 2721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.1:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.Asp433Asn",
        "hgvsWellDefined": "XP_011511777.1:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.1:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.Asp506Asn",
        "hgvsWellDefined": "XP_011511778.1:p.Asp506Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1469,
          "referenceAllele": "G",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513477.1:c.502G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511779.1:p.Asp168Asn",
        "hgvsWellDefined": "XP_011511779.1:p.Asp168Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513478.1:c.226G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511780.1:p.Asp76Asn",
        "hgvsWellDefined": "XP_011511780.1:p.Asp76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827494875",
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:p.Asp154Asn",
        "hgvsWellDefined": "NP_001337083.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030317",
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.1:c.142G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:p.Asp48Asn",
        "hgvsWellDefined": "NP_001337084.1:p.Asp48Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.3:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.Asp506Asn",
        "hgvsWellDefined": "XP_011511775.1:p.Asp506Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.3:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.Asp506Asn",
        "hgvsWellDefined": "XP_011511776.1:p.Asp506Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2720,
          "referenceAllele": "G",
          "start": 2719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.2:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.Asp433Asn",
        "hgvsWellDefined": "XP_011511777.1:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2885,
          "referenceAllele": "G",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.3:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.Asp506Asn",
        "hgvsWellDefined": "XP_011511778.1:p.Asp506Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1536,
          "referenceAllele": "G",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513478.2:c.226G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511780.1:p.Asp76Asn",
        "hgvsWellDefined": "XP_011511780.1:p.Asp76Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008284.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863773.1:p.Asp154Asn",
        "hgvsWellDefined": "XP_016863773.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008285.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863774.1:p.Asp154Asn",
        "hgvsWellDefined": "XP_016863774.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "referenceAllele": "G",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_017008286.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863775.1:p.Asp154Asn",
        "hgvsWellDefined": "XP_016863775.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562822"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827494875",
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.2:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:p.Asp154Asn",
        "hgvsWellDefined": "NP_001337083.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688232"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030317",
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.2:c.142G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:p.Asp48Asn",
        "hgvsWellDefined": "NP_001337084.1:p.Asp48Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS688233"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139802",
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.4:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.3:p.Asp433Asn",
        "hgvsWellDefined": "NP_000274.3:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.1297G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.1297G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Asp433Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.Asp433Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825885964",
      "coordinates": [
        {
          "allele": "A",
          "end": 1351,
          "referenceAllele": "G",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.2:c.1297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.2:p.Asp433Asn",
        "hgvsWellDefined": "NP_001138763.2:p.Asp433Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712791"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825886217",
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145292.2:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138764.2:p.Asp154Asn",
        "hgvsWellDefined": "NP_001138764.2:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712792"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827494875",
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350154.3:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337083.1:p.Asp154Asn",
        "hgvsWellDefined": "NP_001337083.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916030317",
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001350155.3:c.142G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337084.1:p.Asp48Asn",
        "hgvsWellDefined": "NP_001337084.1:p.Asp48Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828816722",
      "coordinates": [
        {
          "allele": "A",
          "end": 1188,
          "referenceAllele": "G",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001379246.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366175.1:p.Asp154Asn",
        "hgvsWellDefined": "NP_001366175.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828817162",
      "coordinates": [
        {
          "allele": "A",
          "end": 706,
          "referenceAllele": "G",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001379247.1:c.460G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001366176.1:p.Asp154Asn",
        "hgvsWellDefined": "NP_001366176.1:p.Asp154Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721938"
    }
  ],
  "type": "nucleotide"
}