{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1218063204",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.1783G= (p.Ala595=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752212470",
        "rs": 752212470
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1311684692",
        "rs": 1311684692
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 197421611,
          "referenceAllele": "G",
          "start": 197421610
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197421611G=",
        "CM000663.2:g.197421611G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 197390741,
          "referenceAllele": "G",
          "start": 197390740
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197390741G=",
        "CM000663.1:g.197390741G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 195657364,
          "referenceAllele": "G",
          "start": 195657363
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195657364G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 158334,
          "referenceAllele": "G",
          "start": 158333
        }
      ],
      "hgvs": [
        "NG_008483.1:g.158334G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 225150,
          "referenceAllele": "G",
          "start": 225149
        }
      ],
      "hgvs": [
        "NG_008483.2:g.225150G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.1783G="
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.1783G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Ala595="
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Ala595="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000681519.1:c.664G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505267.1:p.Ala222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781125"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "G",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367397.1:c.-75G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356367.1:n.-75G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266364"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1447,
          "referenceAllele": "G",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.1447G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:p.Ala483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1918,
          "referenceAllele": "G",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.1576G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1656,
          "referenceAllele": "G",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.1447G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Ala483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1915,
          "referenceAllele": "G",
          "start": 1914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.1576G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064320072",
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1922,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1922,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.1922+70G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1992,
          "referenceAllele": "G",
          "start": 1991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.1992G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.1201G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:p.Ala401="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 899,
          "referenceAllele": "G",
          "start": 898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.1:c.226G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076637"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.2:c.226G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Ala76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1684,
          "referenceAllele": "G",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.940G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:p.Ala314="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1917,
          "referenceAllele": "G",
          "start": 1916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064320072",
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.1783G="
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.1783G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Ala595="
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Ala595="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1608,
          "referenceAllele": "G",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.1447G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Ala483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1873,
          "referenceAllele": "G",
          "start": 1872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.1576G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Ala526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1874,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "G",
          "start": 1874,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.1874+70G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.1944G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "G",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.1783G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Ala595="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}