{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645501535",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 579,
          "referenceAllele": "Y",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_056087.2:p.Tyr579Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8057711",
          "hgvs": "NM_015272.2:c.1736A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174421"
    }
  ],
  "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
      }
    ]
  },
  "type": "amino-acid"
}