{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828731860",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 469,
          "referenceAllele": "R",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NP_001364877.1:p.Arg469His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7089273",
          "hgvs": "NM_001377948.1:c.1406G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738101"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=871706[alleleid]",
        "alleleId": 871706,
        "preferredName": "NM_020366.4(RPGRIP1):c.2480G>A (p.Arg827His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/881493",
        "RCV": [
          "RCV001110514",
          "RCV001111268",
          "RCV002556163"
        ],
        "variationId": 881493
      }
    ]
  },
  "type": "amino-acid"
}