{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092240",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 341,
          "referenceAllele": "L",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NP_000320.1:p.Leu341Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA226472",
          "hgvs": "NM_000329.3:c.1022T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146874"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28157[alleleid]",
        "alleleId": 28157,
        "preferredName": "NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13118",
        "RCV": [
          "RCV000986328",
          "RCV001047062",
          "RCV001831568",
          "RCV002496352",
          "RCV003764564",
          "RCV000013997",
          "RCV000085141"
        ],
        "variationId": 13118
      }
    ]
  },
  "type": "amino-acid"
}