{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8057711",
  "communityStandardTitle": [
    "NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237020[alleleid]",
        "alleleId": 237020,
        "preferredName": "NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235333",
        "RCV": [
          "RCV000224936",
          "RCV000272739",
          "RCV000321854",
          "RCV000364967",
          "RCV001280344",
          "RCV001854774",
          "RCV002500747",
          "RCV002519757",
          "RCV004529383"
        ],
        "variationId": 235333
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-53686863-T-C",
        "id": "16-53686863-T-C",
        "variant": "16:53686863 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.53686863T>C?assembly=hg19",
        "id": "chr16:g.53686863T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.53652951T>C?assembly=hg38",
        "id": "chr16:g.53652951T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/148230131",
        "rs": 148230131
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-53686863-T-C?dataset=gnomad_r2_1",
        "id": "16-53686863-T-C",
        "variant": "16:53686863 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-53652951-T-C?dataset=gnomad_r3",
        "id": "16-53652951-T-C",
        "variant": "16:53652951 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-53652951-T-C?dataset=gnomad_r4",
        "id": "16-53652951-T-C",
        "variant": "16:53652951 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 53652951,
          "referenceAllele": "T",
          "start": 53652950
        }
      ],
      "hgvs": [
        "NC_000016.10:g.53652951T>C",
        "CM000678.2:g.53652951T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 53686863,
          "referenceAllele": "T",
          "start": 53686862
        }
      ],
      "hgvs": [
        "NC_000016.9:g.53686863T>C",
        "CM000678.1:g.53686863T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 52244364,
          "referenceAllele": "T",
          "start": 52244363
        }
      ],
      "hgvs": [
        "NC_000016.8:g.52244364T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 55909,
          "referenceAllele": "A",
          "start": 55908
        }
      ],
      "hgvs": [
        "NG_008991.2:g.55909A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001362"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000262135.9:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262135.4:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000262135.4:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2160,
          "referenceAllele": "A",
          "start": 2159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000565343.2:n.2160A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760464"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000621565.5:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480698.1:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000480698.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000647211.2:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493946.1:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000493946.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769289",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647211.2:c.1736A>G"
          },
          "RefSeq": {
            "hgvs": "NM_015272.5:c.1736A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493946.1:p.Tyr579Cys"
          },
          "RefSeq": {
            "hgvs": "NP_056087.2:p.Tyr579Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1782,
          "referenceAllele": "A",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000680193.1:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506379.1:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000506379.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779813"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000262135.8:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262135.4:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000262135.4:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1787,
          "referenceAllele": "A",
          "start": 1786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000379925.7:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369257.3:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000369257.3:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1788,
          "referenceAllele": "A",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000563746.5:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457889.1:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000457889.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000564374.5:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456534.1:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000456534.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS378050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "ENST00000621565.4:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480698.1:p.Tyr579Cys",
        "hgvsWellDefined": "ENSP00000480698.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405328"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825661832",
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.1:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001121369.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011707"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825661832",
      "coordinates": [
        {
          "allele": "G",
          "end": 1875,
          "referenceAllele": "A",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.2:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001121369.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011708"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826934234",
      "coordinates": [
        {
          "allele": "G",
          "end": 1875,
          "referenceAllele": "A",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.1:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001295263.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645501535",
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.2:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:p.Tyr579Cys",
        "hgvsWellDefined": "NP_056087.2:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033885"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645501535",
      "coordinates": [
        {
          "allele": "G",
          "end": 1875,
          "referenceAllele": "A",
          "start": 1874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.3:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:p.Tyr579Cys",
        "hgvsWellDefined": "NP_056087.2:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033886"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1768,
          "referenceAllele": "A",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255867.1:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255924.1:p.Tyr579Cys",
        "hgvsWellDefined": "XP_005255924.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061084"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255868.1:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255925.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_005255925.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061085"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 134,
          "referenceAllele": "A",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255871.2:c.-20A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255928.1:n.-20A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2014,
          "referenceAllele": "A",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522968.1:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521270.1:p.Tyr579Cys",
        "hgvsWellDefined": "XP_011521270.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522969.1:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521271.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_011521271.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522970.1:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521272.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_011521272.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522971.1:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521273.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_011521273.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522972.1:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521274.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_011521274.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522973.1:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521275.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_011521275.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 93,
          "referenceAllele": "A",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522974.1:c.-20A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521276.1:n.-20A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090115"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1780,
          "referenceAllele": "A",
          "start": 1779
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XR_933260.1:n.1780A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128947"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825661832",
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "A",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.3:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001121369.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826934234",
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "A",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.2:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001295263.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512380"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827321371",
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "A",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001330538.1:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317467.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001317467.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516906"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645501535",
      "coordinates": [
        {
          "allele": "G",
          "end": 1879,
          "referenceAllele": "A",
          "start": 1878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.4:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:p.Tyr579Cys",
        "hgvsWellDefined": "NP_056087.2:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_005255868.2:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255925.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_005255925.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522970.2:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521272.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_011521272.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546829"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522971.3:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521273.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_011521273.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546830"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_011522973.3:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521275.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_011521275.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546831"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023094.2:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878583.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_016878583.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023095.2:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878584.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_016878584.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573911"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023096.2:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878585.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_016878585.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023097.2:c.1748A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878586.1:p.Tyr583Cys",
        "hgvsWellDefined": "XP_016878586.1:p.Tyr583Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 743,
          "referenceAllele": "A",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023098.1:c.-20A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878587.1:n.-20A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573914"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 109,
          "referenceAllele": "A",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023099.1:c.-20A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878588.1:n.-20A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1863,
          "referenceAllele": "A",
          "start": 1862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XM_017023100.2:c.*83A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878589.1:n.*83A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1791,
          "referenceAllele": "A",
          "start": 1790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "XR_933260.3:n.1791A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610401"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645501535",
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_015272.5:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056087.2:p.Tyr579Cys",
        "hgvsWellDefined": "NP_056087.2:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668699",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647211.2:c.1736A>G"
          },
          "RefSeq": {
            "hgvs": "NM_015272.5:c.1736A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493946.1:p.Tyr579Cys"
          },
          "RefSeq": {
            "hgvs": "NP_056087.2:p.Tyr579Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825661832",
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001127897.4:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121369.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001121369.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676952"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827321371",
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001330538.2:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317467.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001317467.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826934234",
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "A",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.3:c.1736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:p.Tyr579Cys",
        "hgvsWellDefined": "NP_001295263.1:p.Tyr579Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717273"
    }
  ],
  "type": "nucleotide"
}