{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042847",
  "communityStandardTitle": [
    "NM_020366.4(RPGRIP1):c.3339+5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360037[alleleid]",
        "alleleId": 360037,
        "preferredName": "NM_020366.4(RPGRIP1):c.3339+5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372988",
        "RCV": [
          "RCV000413987",
          "RCV000515742"
        ],
        "variationId": 372988
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21802869G>A?assembly=hg19",
        "id": "chr14:g.21802869G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.21334710G>A?assembly=hg38",
        "id": "chr14:g.21334710G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057518122",
        "rs": 1057518122
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-21334710-G-A?dataset=gnomad_r4",
        "id": "14-21334710-G-A",
        "variant": "14:21334710 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 21334710,
          "referenceAllele": "G",
          "start": 21334709
        }
      ],
      "hgvs": [
        "NC_000014.9:g.21334710G>A",
        "CM000676.2:g.21334710G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 21802869,
          "referenceAllele": "G",
          "start": 21802868
        }
      ],
      "hgvs": [
        "NC_000014.8:g.21802869G>A",
        "CM000676.1:g.21802869G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 20872709,
          "referenceAllele": "G",
          "start": 20872708
        }
      ],
      "hgvs": [
        "NC_000014.7:g.20872709G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 51734,
          "referenceAllele": "G",
          "start": 51733
        }
      ],
      "hgvs": [
        "NG_008933.1:g.51734G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3454,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3454,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000400017.7:c.3339+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382895.2:n.3339+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753892",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.3339+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.3339+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:n.3339+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:n.3339+5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1397,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1397,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000382933.8:c.1317+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372391.4:n.1317+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3339,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3339,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000400017.6:c.3339+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382895.2:n.3339+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2271,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2271,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000553927.1:n.2271+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1766,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1766,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000555322.5:c.1766+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1532,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1532,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000555489.5:c.1532+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451044.1:n.1532+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1764,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1764,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000555587.5:c.1764+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451262.1:n.1764+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371552"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2348,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2348,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000556336.5:c.2310+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450445.1:n.2310+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS372145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 272,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000557606.1:c.272+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373171"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3263,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3263,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "ENST00000557771.5:c.3225+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451219.1:n.3225+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3339,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3339,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.3:c.3339+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:n.3339+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2334,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2334,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_005267879.2:c.2268+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267936.1:n.2268+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2301,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2301,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_005267880.2:c.2235+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267937.1:n.2235+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1827,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_005267881.2:c.1716+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267938.1:n.1716+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2331,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2331,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536978.1:c.2265+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535280.1:n.2265+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103948"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2118,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2118,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536979.1:c.2052+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535281.1:n.2052+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1989,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1989,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536980.1:c.1923+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535282.1:n.1923+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1839,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1839,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536981.1:c.1773+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535283.1:n.1773+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1494,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536982.1:c.1428+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535284.1:n.1428+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3321,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3321,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_011536983.1:c.3306+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535285.1:n.3306+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1829,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1829,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_005267881.3:c.1716+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267938.1:n.1716+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536479"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1836,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1836,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_017021473.1:c.1770+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876962.1:n.1770+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572674"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2328,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2328,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_024449663.1:c.2262+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305431.1:n.2262+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583210"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1833,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1833,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_024449664.1:c.1767+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305432.1:n.1767+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583211"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1491,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_024449665.1:c.1425+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305433.1:n.1425+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583212"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1488,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1488,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "XM_024449666.1:c.1422+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305434.1:n.1422+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1383,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377523.1:c.1317+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364452.1:n.1317+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2331,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 2331,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377948.1:c.2265+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364877.1:n.2265+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721330"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1491,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1491,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377949.1:c.1425+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364878.1:n.1425+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721331"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1383,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 1383,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377950.1:c.1317+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364879.1:n.1317+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 980,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 980,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377951.1:c.822+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364880.1:n.822+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721333"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3454,
          "endIntronDirection": "+",
          "endIntronOffset": 5,
          "referenceAllele": "G",
          "start": 3454,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.4:c.3339+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:n.3339+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.3339+5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.3339+5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:n.3339+5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:n.3339+5G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}