{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826446760",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 695,
          "referenceAllele": "R",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NP_001244894.1:p.Arg695Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA228006",
          "hgvs": "NM_001257965.2:c.2083C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160112"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20771[alleleid]",
        "alleleId": 20771,
        "preferredName": "NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5732",
        "RCV": [
          "RCV000006086",
          "RCV000086317",
          "RCV000656137",
          "RCV000787577",
          "RCV001052374",
          "RCV001074882",
          "RCV001250604",
          "RCV001352991",
          "RCV003447471",
          "RCV003450615",
          "RCV002496279",
          "RCV004540990"
        ],
        "variationId": 5732
      }
    ]
  },
  "type": "amino-acid"
}