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      "@id": "http://reg.genome.network/allele/PA2828732445",
      "coordinates": [
        {
          "allele": "C",
          "end": 922,
          "referenceAllele": "G",
          "start": 921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377950.1:c.856G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364879.1:p.Ala286Pro",
        "hgvsWellDefined": "NP_001364879.1:p.Ala286Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828732676",
      "coordinates": [
        {
          "allele": "C",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377951.1:c.358G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364880.1:p.Ala120Pro",
        "hgvsWellDefined": "NP_001364880.1:p.Ala120Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658819767",
      "coordinates": [
        {
          "allele": "C",
          "end": 2993,
          "referenceAllele": "G",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.4:c.2878G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Ala960Pro",
        "hgvsWellDefined": "NP_065099.3:p.Ala960Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.2878G>C"
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.2878G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:p.Ala960Pro"
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:p.Ala960Pro"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}