{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA233861",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.2291G>A (p.Arg764His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177057[alleleid]",
        "alleleId": 177057,
        "preferredName": "NM_201253.3(CRB1):c.2291G>A (p.Arg764His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/166958",
        "RCV": [
          "RCV000153110",
          "RCV001831949",
          "RCV002247550",
          "RCV001250605",
          "RCV001235069"
        ],
        "variationId": 166958
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-197396746-G-A",
        "id": "1-197396746-G-A",
        "variant": "1:197396746 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197396746G>A?assembly=hg19",
        "id": "chr1:g.197396746G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197427616G>A?assembly=hg38",
        "id": "chr1:g.197427616G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375040930",
        "rs": 375040930
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197396746-G-A?dataset=gnomad_r2_1",
        "id": "1-197396746-G-A",
        "variant": "1:197396746 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197427616-G-A?dataset=gnomad_r3",
        "id": "1-197427616-G-A",
        "variant": "1:197427616 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197427616-G-A?dataset=gnomad_r4",
        "id": "1-197427616-G-A",
        "variant": "1:197427616 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 197427616,
          "referenceAllele": "G",
          "start": 197427615
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197427616G>A",
        "CM000663.2:g.197427616G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 197396746,
          "referenceAllele": "G",
          "start": 197396745
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197396746G>A",
        "CM000663.1:g.197396746G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 195663369,
          "referenceAllele": "G",
          "start": 195663368
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195663369G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 164339,
          "referenceAllele": "G",
          "start": 164338
        }
      ],
      "hgvs": [
        "NG_008483.1:g.164339G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 231155,
          "referenceAllele": "G",
          "start": 231154
        }
      ],
      "hgvs": [
        "NG_008483.2:g.231155G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Arg764His",
        "hgvsWellDefined": "ENSP00000356370.3:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.2291G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.2291G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Arg764His"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Arg764His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2426,
          "referenceAllele": "G",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Arg764His",
        "hgvsWellDefined": "ENSP00000491102.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1272,
          "referenceAllele": "G",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000681519.1:c.1172G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505267.1:p.Arg391His",
        "hgvsWellDefined": "ENSP00000505267.1:p.Arg391His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781125"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1292,
          "referenceAllele": "G",
          "start": 1291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367397.1:c.434G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356367.1:p.Arg145His",
        "hgvsWellDefined": "ENSP00000356367.1:p.Arg145His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266364"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1955,
          "referenceAllele": "G",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:p.Arg652His",
        "hgvsWellDefined": "ENSP00000356369.2:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2426,
          "referenceAllele": "G",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Arg764His",
        "hgvsWellDefined": "ENSP00000356370.3:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 192,
          "referenceAllele": "G",
          "start": 191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000480086.2:n.192G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2426,
          "referenceAllele": "G",
          "start": 2425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Arg764His",
        "hgvsWellDefined": "ENSP00000433932.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2500,
          "referenceAllele": "G",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.2084G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:p.Arg695His",
        "hgvsWellDefined": "ENSP00000438786.1:p.Arg695His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "endIntronDirection": "+",
          "endIntronOffset": 5660,
          "referenceAllele": "G",
          "start": 2337,
          "startIntronDirection": "+",
          "startIntronOffset": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.2128+5660G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:n.2128+5660G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826192223",
      "coordinates": [
        {
          "allele": "A",
          "end": 2164,
          "referenceAllele": "G",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Arg652His",
        "hgvsWellDefined": "NP_001180569.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826446759",
      "coordinates": [
        {
          "allele": "A",
          "end": 2423,
          "referenceAllele": "G",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.2084G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Arg695His",
        "hgvsWellDefined": "NP_001244894.1:p.Arg695His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "endIntronDirection": "+",
          "endIntronOffset": 5660,
          "referenceAllele": "G",
          "start": 2337,
          "startIntronDirection": "+",
          "startIntronOffset": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.2128+5660G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2128+5660G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233862",
      "coordinates": [
        {
          "allele": "A",
          "end": 2500,
          "referenceAllele": "G",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Arg764His",
        "hgvsWellDefined": "NP_957705.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2292,
          "referenceAllele": "G",
          "start": 2291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.2292G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2500,
          "referenceAllele": "G",
          "start": 2499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.2500G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Arg764His",
        "hgvsWellDefined": "XP_011507667.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Arg764His",
        "hgvsWellDefined": "XP_011507668.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Arg764His",
        "hgvsWellDefined": "XP_011507669.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1874,
          "referenceAllele": "G",
          "start": 1873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.1709G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:p.Arg570His",
        "hgvsWellDefined": "XP_011507670.1:p.Arg570His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1407,
          "referenceAllele": "G",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.1:c.734G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Arg245His",
        "hgvsWellDefined": "XP_011507671.1:p.Arg245His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Arg764His",
        "hgvsWellDefined": "XP_011507667.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1213,
          "referenceAllele": "G",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.2:c.734G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Arg245His",
        "hgvsWellDefined": "XP_011507671.1:p.Arg245His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2192,
          "referenceAllele": "G",
          "start": 2191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.1448G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:p.Arg483His",
        "hgvsWellDefined": "XP_016856340.1:p.Arg483His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2425,
          "referenceAllele": "G",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Arg764His",
        "hgvsWellDefined": "XP_016856341.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233862",
      "coordinates": [
        {
          "allele": "A",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.2291G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Arg764His",
        "hgvsWellDefined": "NP_957705.1:p.Arg764His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.2291G>A"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.2291G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Arg764His"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Arg764His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826192223",
      "coordinates": [
        {
          "allele": "A",
          "end": 2116,
          "referenceAllele": "G",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.1955G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Arg652His",
        "hgvsWellDefined": "NP_001180569.1:p.Arg652His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826446759",
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "referenceAllele": "G",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.2084G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Arg695His",
        "hgvsWellDefined": "NP_001244894.1:p.Arg695His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2244,
          "referenceAllele": "G",
          "start": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.2244G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2452,
          "referenceAllele": "G",
          "start": 2451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.2452G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2289,
          "endIntronDirection": "+",
          "endIntronOffset": 5660,
          "referenceAllele": "G",
          "start": 2289,
          "startIntronDirection": "+",
          "startIntronOffset": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.2128+5660G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2128+5660G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}