{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2793902",
  "communityStandardTitle": [
    "NM_000283.4(PDE6B):c.297G>A (p.Gln99=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=892002[alleleid]",
        "alleleId": 892002,
        "preferredName": "NM_000283.4(PDE6B):c.297G>A (p.Gln99=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/903744",
        "RCV": [
          "RCV001151254",
          "RCV001151255",
          "RCV002070829"
        ],
        "variationId": 903744
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-619712-G-A",
        "id": "4-619712-G-A",
        "variant": "4:619712 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.619712G>A?assembly=hg19",
        "id": "chr4:g.619712G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.625923G>A?assembly=hg38",
        "id": "chr4:g.625923G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/768652560",
        "rs": 768652560
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-619712-G-A?dataset=gnomad_r2_1",
        "id": "4-619712-G-A",
        "variant": "4:619712 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-625923-G-A?dataset=gnomad_r4",
        "id": "4-625923-G-A",
        "variant": "4:625923 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 625923,
          "referenceAllele": "G",
          "start": 625922
        }
      ],
      "hgvs": [
        "NC_000004.12:g.625923G>A",
        "CM000666.2:g.625923G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 619712,
          "referenceAllele": "G",
          "start": 619711
        }
      ],
      "hgvs": [
        "NC_000004.11:g.619712G>A",
        "CM000666.1:g.619712G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 609712,
          "referenceAllele": "G",
          "start": 609711
        }
      ],
      "hgvs": [
        "NC_000004.10:g.609712G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5350,
          "referenceAllele": "G",
          "start": 5349
        }
      ],
      "hgvs": [
        "NG_009839.1:g.5350G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.6:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757834",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.297G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.297G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Gln99="
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.Gln99="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000255622.10:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255622.6:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "referenceAllele": "G",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.5:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.3:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.2:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 350,
          "referenceAllele": "G",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.1:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.1:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.1:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.Gln172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.1:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.Gln172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1722,
          "referenceAllele": "G",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.1:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.1:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.Gln172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.3:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.Gln172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.3:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.Gln172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1720,
          "referenceAllele": "G",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.2:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542929"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.3:c.516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.Gln172="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139502",
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.4:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.3:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.297G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.297G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Gln99="
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.Gln99="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825885825",
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "referenceAllele": "G",
          "start": 350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.2:c.297G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.2:p.Gln99="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712791"
    }
  ],
  "type": "nucleotide"
}