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      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377949.1:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364878.1:p.Ala189Ser",
        "hgvsWellDefined": "NP_001364878.1:p.Ala189Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721331"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828732400",
      "coordinates": [
        {
          "allele": "T",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377950.1:c.565G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364879.1:p.Ala189Ser",
        "hgvsWellDefined": "NP_001364879.1:p.Ala189Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721332"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828732634",
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_001377951.1:c.67G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364880.1:p.Ala23Ser",
        "hgvsWellDefined": "NP_001364880.1:p.Ala23Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721333"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105345",
      "coordinates": [
        {
          "allele": "T",
          "end": 1754,
          "referenceAllele": "G",
          "start": 1753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NM_020366.4:c.1639G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065099.3:p.Ala547Ser",
        "hgvsWellDefined": "NP_065099.3:p.Ala547Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728429",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400017.7:c.1639G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020366.4:c.1639G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000382895.2:p.Ala547Ser"
          },
          "RefSeq": {
            "hgvs": "NP_065099.3:p.Ala547Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}