{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1311549",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537108[alleleid]",
        "alleleId": 537108,
        "preferredName": "NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546619",
        "RCV": [
          "RCV000658537",
          "RCV001477776",
          "RCV001526747"
        ],
        "variationId": 546619
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-197237571-T-C",
        "id": "1-197237571-T-C",
        "variant": "1:197237571 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197237571T>C?assembly=hg19",
        "id": "chr1:g.197237571T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197268441T>C?assembly=hg38",
        "id": "chr1:g.197268441T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201609001",
        "rs": 201609001
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197237571-T-C?dataset=gnomad_r2_1",
        "id": "1-197237571-T-C",
        "variant": "1:197237571 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197268441-T-C?dataset=gnomad_r3",
        "id": "1-197268441-T-C",
        "variant": "1:197268441 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-197268441-T-C?dataset=gnomad_r4",
        "id": "1-197268441-T-C",
        "variant": "1:197268441 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197268441,
          "referenceAllele": "T",
          "start": 197268440
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197268441T>C",
        "CM000663.2:g.197268441T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 197237571,
          "referenceAllele": "T",
          "start": 197237570
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197237571T>C",
        "CM000663.1:g.197237571T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 195504194,
          "referenceAllele": "T",
          "start": 195504193
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195504194T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5164,
          "referenceAllele": "T",
          "start": 5163
        }
      ],
      "hgvs": [
        "NG_008483.1:g.5164T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 71980,
          "referenceAllele": "T",
          "start": 71979
        }
      ],
      "hgvs": [
        "NG_008483.2:g.71980T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "T",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Leu10Pro",
        "hgvsWellDefined": "ENSP00000356370.3:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.29T>C"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.29T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Leu10Pro"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Leu10Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "T",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Leu10Pro",
        "hgvsWellDefined": "ENSP00000491102.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 29,
          "referenceAllele": "T",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:p.Leu10Pro",
        "hgvsWellDefined": "ENSP00000356369.2:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "T",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Leu10Pro",
        "hgvsWellDefined": "ENSP00000356370.3:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 166,
          "referenceAllele": "T",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000475659.1:n.166T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316891"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 164,
          "referenceAllele": "T",
          "start": 163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Leu10Pro",
        "hgvsWellDefined": "ENSP00000433932.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.-179T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:n.-179T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:p.Leu10Pro",
        "hgvsWellDefined": "ENSP00000438091.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826191579",
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Leu10Pro",
        "hgvsWellDefined": "NP_001180569.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "endIntronDirection": "-",
          "endIntronOffset": 33998,
          "referenceAllele": "T",
          "start": 127,
          "startIntronDirection": "-",
          "startIntronOffset": 33999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.-212-33999T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:n.-212-33999T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826447421",
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Leu10Pro",
        "hgvsWellDefined": "NP_001244895.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830337",
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Leu10Pro",
        "hgvsWellDefined": "NP_957705.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.238T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 238,
          "referenceAllele": "T",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.238T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Leu10Pro",
        "hgvsWellDefined": "XP_011507667.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Leu10Pro",
        "hgvsWellDefined": "XP_011507668.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Leu10Pro",
        "hgvsWellDefined": "XP_011507669.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 194,
          "referenceAllele": "T",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:p.Leu10Pro",
        "hgvsWellDefined": "XP_011507670.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Leu10Pro",
        "hgvsWellDefined": "XP_011507667.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 70,
          "referenceAllele": "T",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.-675T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:n.-675T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 163,
          "referenceAllele": "T",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Leu10Pro",
        "hgvsWellDefined": "XP_016856341.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658830337",
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "T",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Leu10Pro",
        "hgvsWellDefined": "NP_957705.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.29T>C"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.29T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Leu10Pro"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Leu10Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826191579",
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "T",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Leu10Pro",
        "hgvsWellDefined": "NP_001180569.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 85,
          "endIntronDirection": "-",
          "endIntronOffset": 33998,
          "referenceAllele": "T",
          "start": 85,
          "startIntronDirection": "-",
          "startIntronOffset": 33999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.-212-33999T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:n.-212-33999T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "T",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.190T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "T",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.190T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826447421",
      "coordinates": [
        {
          "allele": "C",
          "end": 190,
          "referenceAllele": "T",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.29T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:p.Leu10Pro",
        "hgvsWellDefined": "NP_001244895.1:p.Leu10Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}