{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1141461187",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.1182C= (p.Cys394=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/115352681",
        "rs": 115352681
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197421010,
          "referenceAllele": "C",
          "start": 197421009
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197421010C=",
        "CM000663.2:g.197421010C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197390140,
          "referenceAllele": "C",
          "start": 197390139
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197390140C=",
        "CM000663.1:g.197390140C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 195656763,
          "referenceAllele": "C",
          "start": 195656762
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195656763C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 157733,
          "referenceAllele": "C",
          "start": 157732
        }
      ],
      "hgvs": [
        "NG_008483.1:g.157733C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 224549,
          "referenceAllele": "C",
          "start": 224548
        }
      ],
      "hgvs": [
        "NG_008483.2:g.224549C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.1182C="
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.1182C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Cys394="
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Cys394="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "C",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000681519.1:c.63C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505267.1:p.Cys21="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 183,
          "referenceAllele": "C",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367397.1:c.-676C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356367.1:n.-676C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266364"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.846C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:p.Cys282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000476483.1:n.142C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.975C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:p.Cys325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826191848",
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "C",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.846C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Cys282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826446387",
      "coordinates": [
        {
          "allele": "C",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.975C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Cys325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826447790",
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830467378",
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.1391C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1391,
          "referenceAllele": "C",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.1391C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 765,
          "referenceAllele": "C",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.600C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:p.Cys200="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 298,
          "referenceAllele": "C",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.1:c.-376C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:n.-376C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076637"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104,
          "referenceAllele": "C",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.2:c.-376C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:n.-376C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.339C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:p.Cys113="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830467378",
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.1182C="
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.1182C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Cys394="
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Cys394="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826191848",
      "coordinates": [
        {
          "allele": "C",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.846C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Cys282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826446387",
      "coordinates": [
        {
          "allele": "C",
          "end": 1272,
          "referenceAllele": "C",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.975C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Cys325="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.1343C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.1343C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826447790",
      "coordinates": [
        {
          "allele": "C",
          "end": 1343,
          "referenceAllele": "C",
          "start": 1342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.1182C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Cys394="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}