{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110194",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_957705.1:p.Cys948Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA228022",
          "hgvs": "NM_201253.3:c.2843G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185489"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48213[alleleid]",
        "alleleId": 48213,
        "preferredName": "NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/39614",
        "RCV": [
          "RCV000032814",
          "RCV000032815",
          "RCV000086331",
          "RCV000505155",
          "RCV000554663",
          "RCV000762874",
          "RCV000787579",
          "RCV001097540",
          "RCV001275657",
          "RCV003313928",
          "RCV003324500"
        ],
        "variationId": 39614
      }
    ]
  },
  "type": "amino-acid"
}