{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6711864",
  "communityStandardTitle": [
    "NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=672202[alleleid]",
        "alleleId": 672202,
        "preferredName": "NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/684612",
        "RCV": [
          "RCV001000093",
          "RCV001244303",
          "RCV001830860",
          "RCV003448352",
          "RCV003889992",
          "RCV004029250",
          "RCV004538167"
        ],
        "variationId": 684612
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-88477631-G-A",
        "id": "12-88477631-G-A",
        "variant": "12:88477631 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.88477631G>A?assembly=hg19",
        "id": "chr12:g.88477631G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.88083854G>A?assembly=hg38",
        "id": "chr12:g.88083854G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369451049",
        "rs": 369451049
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88477631-G-A?dataset=gnomad_r2_1",
        "id": "12-88477631-G-A",
        "variant": "12:88477631 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88083854-G-A?dataset=gnomad_r3",
        "id": "12-88083854-G-A",
        "variant": "12:88083854 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88083854-G-A?dataset=gnomad_r4",
        "id": "12-88083854-G-A",
        "variant": "12:88083854 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 88083854,
          "referenceAllele": "G",
          "start": 88083853
        }
      ],
      "hgvs": [
        "NC_000012.12:g.88083854G>A",
        "CM000674.2:g.88083854G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 88477631,
          "referenceAllele": "G",
          "start": 88477630
        }
      ],
      "hgvs": [
        "NC_000012.11:g.88477631G>A",
        "CM000674.1:g.88477631G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 87001762,
          "referenceAllele": "G",
          "start": 87001761
        }
      ],
      "hgvs": [
        "NC_000012.10:g.87001762G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63363,
          "referenceAllele": "C",
          "start": 63362
        }
      ],
      "hgvs": [
        "NG_008417.1:g.63363C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 63363,
          "referenceAllele": "C",
          "start": 63362
        }
      ],
      "hgvs": [
        "NG_008417.2:g.63363C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706085"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5032,
          "referenceAllele": "C",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000309041.12:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308021.8:p.Thr1602Met",
        "hgvsWellDefined": "ENSP00000308021.8:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2089,
          "referenceAllele": "C",
          "start": 2088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000547691.8:c.2089C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5021,
          "referenceAllele": "C",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000552810.6:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448012.1:p.Thr1602Met",
        "hgvsWellDefined": "ENSP00000448012.1:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760039",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000552810.6:c.4805C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025114.4:c.4805C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448012.1:p.Thr1602Met"
          },
          "RefSeq": {
            "hgvs": "NP_079390.3:p.Thr1602Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4919,
          "referenceAllele": "C",
          "start": 4918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000672414.2:c.*2976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500729.1:n.*2976C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3165,
          "referenceAllele": "C",
          "start": 3164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000672647.1:n.3165C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5032,
          "referenceAllele": "C",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000673058.2:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500665.2:p.Thr1602Met",
        "hgvsWellDefined": "ENSP00000500665.2:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5032,
          "referenceAllele": "C",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000674971.1:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502194.1:p.Thr1602Met",
        "hgvsWellDefined": "ENSP00000502194.1:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5011,
          "referenceAllele": "C",
          "start": 5010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675230.1:c.4784C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502503.1:p.Thr1595Met",
        "hgvsWellDefined": "ENSP00000502503.1:p.Thr1595Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5032,
          "referenceAllele": "C",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675408.1:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502298.1:p.Thr1602Met",
        "hgvsWellDefined": "ENSP00000502298.1:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5893,
          "referenceAllele": "C",
          "start": 5892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675476.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502161.1:p.Thr1889Met",
        "hgvsWellDefined": "ENSP00000502161.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5032,
          "referenceAllele": "C",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675628.1:n.5032C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4919,
          "referenceAllele": "C",
          "start": 4918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675794.1:c.*2976C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502841.1:n.*2976C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5800,
          "referenceAllele": "C",
          "start": 5799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675833.1:c.5573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502559.1:p.Thr1858Met",
        "hgvsWellDefined": "ENSP00000502559.1:p.Thr1858Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675894.1:n.1110C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5032,
          "referenceAllele": "C",
          "start": 5031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676074.1:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502079.1:p.Thr1602Met",
        "hgvsWellDefined": "ENSP00000502079.1:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3733,
          "referenceAllele": "C",
          "start": 3732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676181.1:n.3733C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10531,
          "referenceAllele": "C",
          "start": 10530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676363.1:n.10531C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4889,
          "referenceAllele": "C",
          "start": 4888
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676448.1:c.*2718C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501987.1:n.*2718C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4811,
          "referenceAllele": "C",
          "start": 4810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000309041.11:c.4811C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308021.7:p.Thr1604Met",
        "hgvsWellDefined": "ENSP00000308021.7:p.Thr1604Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3165,
          "referenceAllele": "C",
          "start": 3164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000547691.6:c.1985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446905.1:p.Thr662Met",
        "hgvsWellDefined": "ENSP00000446905.1:p.Thr662Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5149,
          "referenceAllele": "C",
          "start": 5148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000552810.5:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448012.1:p.Thr1602Met",
        "hgvsWellDefined": "ENSP00000448012.1:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054765",
      "coordinates": [
        {
          "allele": "T",
          "end": 5149,
          "referenceAllele": "C",
          "start": 5148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NM_025114.3:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079390.3:p.Thr1602Met",
        "hgvsWellDefined": "NP_079390.3:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538756.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537058.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537058.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5780,
          "referenceAllele": "C",
          "start": 5779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538757.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537059.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537059.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538758.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537060.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537060.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538759.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537061.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537061.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538760.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537062.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537062.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538761.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537063.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537063.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5242,
          "referenceAllele": "C",
          "start": 5241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538762.1:c.4898C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537064.1:p.Thr1633Met",
        "hgvsWellDefined": "XP_011537064.1:p.Thr1633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5149,
          "referenceAllele": "C",
          "start": 5148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538763.1:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537065.1:p.Thr1602Met",
        "hgvsWellDefined": "XP_011537065.1:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538764.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537066.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537066.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538765.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537067.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537067.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4237,
          "referenceAllele": "C",
          "start": 4236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538766.1:c.4127C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537068.1:p.Thr1376Met",
        "hgvsWellDefined": "XP_011537068.1:p.Thr1376Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538756.3:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537058.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537058.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5818,
          "referenceAllele": "C",
          "start": 5817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538757.3:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537059.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537059.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538758.3:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537060.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537060.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538759.2:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537061.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537061.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538760.2:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537062.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537062.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538761.2:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537063.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537063.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5242,
          "referenceAllele": "C",
          "start": 5241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538762.3:c.4898C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537064.1:p.Thr1633Met",
        "hgvsWellDefined": "XP_011537064.1:p.Thr1633Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5149,
          "referenceAllele": "C",
          "start": 5148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538763.3:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537065.1:p.Thr1602Met",
        "hgvsWellDefined": "XP_011537065.1:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538764.3:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537066.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537066.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538765.3:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537067.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_011537067.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4237,
          "referenceAllele": "C",
          "start": 4236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538766.3:c.4127C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537068.1:p.Thr1376Met",
        "hgvsWellDefined": "XP_011537068.1:p.Thr1376Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019980.2:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875469.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_016875469.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019981.2:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875470.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_016875470.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019982.1:c.5666C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875471.1:p.Thr1889Met",
        "hgvsWellDefined": "XP_016875471.1:p.Thr1889Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5128,
          "referenceAllele": "C",
          "start": 5127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019983.2:c.4784C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875472.1:p.Thr1595Met",
        "hgvsWellDefined": "XP_016875472.1:p.Thr1595Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XR_001748869.1:n.6010C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6010,
          "referenceAllele": "C",
          "start": 6009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XR_001748870.2:n.6010C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054765",
      "coordinates": [
        {
          "allele": "T",
          "end": 5021,
          "referenceAllele": "C",
          "start": 5020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NM_025114.4:c.4805C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079390.3:p.Thr1602Met",
        "hgvsWellDefined": "NP_079390.3:p.Thr1602Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000552810.6:c.4805C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025114.4:c.4805C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448012.1:p.Thr1602Met"
          },
          "RefSeq": {
            "hgvs": "NP_079390.3:p.Thr1602Met"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}