{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658676151",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_957705.1:p.Cys948Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA344041407",
          "hgvs": "NM_201253.3:c.2842T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185489"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=418814[alleleid]",
        "alleleId": 418814,
        "preferredName": "NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/427863",
        "RCV": [
          "RCV000515691",
          "RCV000986493",
          "RCV001250609",
          "RCV001389640",
          "RCV001836643",
          "RCV003987563",
          "RCV003449270"
        ],
        "variationId": 427863
      }
    ]
  },
  "type": "amino-acid"
}