{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827332873",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 647,
          "referenceAllele": "P",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NP_001317138.1:p.Pro647Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10351924",
          "hgvs": "NM_001330209.2:c.1940C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363655[alleleid]",
        "alleleId": 363655,
        "preferredName": "NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376777",
        "RCV": [
          "RCV000435733",
          "RCV000721041",
          "RCV000638949"
        ],
        "variationId": 376777
      }
    ]
  },
  "type": "amino-acid"
}