{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279339",
  "communityStandardTitle": [
    "NM_015272.5(RPGRIP1L):c.2305-1G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3969589",
        "active": true,
        "id": "COSM3969589"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214352[alleleid]",
        "alleleId": 214352,
        "preferredName": "NM_015272.5(RPGRIP1L):c.2305-1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217690",
        "RCV": [
          "RCV000201526"
        ],
        "variationId": 217690
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.53679916C>T?assembly=hg19",
        "id": "chr16:g.53679916C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.53646004C>T?assembly=hg38",
        "id": "chr16:g.53646004C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225215",
        "rs": 863225215
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-53646004-C-T?dataset=gnomad_r4",
        "id": "16-53646004-C-T",
        "variant": "16:53646004 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 53646004,
          "referenceAllele": "C",
          "start": 53646003
        }
      ],
      "hgvs": [
        "NC_000016.10:g.53646004C>T",
        "CM000678.2:g.53646004C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 53679916,
          "referenceAllele": "C",
          "start": 53679915
        }
      ],
      "hgvs": [
        "NC_000016.9:g.53679916C>T",
        "CM000678.1:g.53679916C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 52237417,
          "referenceAllele": "C",
          "start": 52237416
        }
      ],
      "hgvs": [
        "NC_000016.8:g.52237417C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 62856,
          "referenceAllele": "G",
          "start": 62855
        }
      ],
      "hgvs": [
        "NG_008991.2:g.62856G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001362"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2398,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2398,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000262135.9:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262135.4:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2728,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2728,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000565343.2:n.2729-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2350,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2350,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000621565.5:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480698.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000647211.2:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493946.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647211.2:c.2305-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015272.5:c.2305-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493946.1:n.2305-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056087.2:n.2305-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2350,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2350,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000680193.1:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506379.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779813"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2398,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2398,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000262135.8:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262135.4:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250939"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2355,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2355,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000379925.7:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369257.3:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2356,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2356,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000563746.5:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457889.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377628"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2398,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2398,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000564374.5:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456534.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000621565.4:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480698.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.1:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011707"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2443,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.2:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2443,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.1:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026290"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.2:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033885"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2443,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.3:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2336,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2336,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255867.1:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255924.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061084"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255868.1:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255925.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061085"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 702,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255871.2:c.550-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255928.1:n.550-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2582,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2582,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522968.1:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521270.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522969.1:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521271.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090110"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522970.1:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521272.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522971.1:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521273.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090112"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522972.1:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521274.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522973.1:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521275.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090114"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 661,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 661,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522974.1:c.550-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521276.1:n.550-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XR_933260.1:n.2349-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2447,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2447,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.3:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2447,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2447,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.2:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512380"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2447,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2447,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001330538.1:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317467.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2447,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2447,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.4:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255868.2:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255925.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522970.2:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521272.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522971.3:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521273.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546830"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522973.3:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521275.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023094.2:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878583.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023095.2:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878584.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023096.2:c.2317-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878585.1:n.2317-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1311,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1311,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023098.1:c.550-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878587.1:n.550-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 677,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 677,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023099.1:c.550-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878588.1:n.550-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2359,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2359,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XR_933260.3:n.2360-1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.5:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647211.2:c.2305-1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_015272.5:c.2305-1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493946.1:n.2305-1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_056087.2:n.2305-1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.4:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001330538.2:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317467.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2368,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 2368,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.3:c.2305-1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:n.2305-1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717273"
    }
  ],
  "type": "nucleotide"
}