{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499248186",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 690,
          "referenceAllele": "R",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008108",
      "geneNCBI_id": 4952,
      "geneSymbol": "OCRL",
      "hgvs": [
        "NP_001305713.1:p.Arg690His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10512272",
          "hgvs": "NM_001318784.2:c.2069G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648308"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=984711[alleleid]",
        "alleleId": 984711,
        "preferredName": "NM_000276.4(OCRL):c.2066G>A (p.Arg689His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996976",
        "RCV": [
          "RCV001291799",
          "RCV002499519",
          "RCV004035584"
        ],
        "variationId": 996976
      }
    ]
  },
  "type": "amino-acid"
}