{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829459828",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 219,
          "referenceAllele": "L",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NP_003602.1:p.Leu219Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10351669",
          "hgvs": "NM_003611.3:c.656T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169384"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1295822[alleleid]",
        "alleleId": 1295822,
        "preferredName": "NM_003611.3(OFD1):c.656T>G (p.Leu219Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1306873",
        "RCV": [
          "RCV001771053",
          "RCV001861107",
          "RCV004040147"
        ],
        "variationId": 1306873
      }
    ]
  },
  "type": "amino-acid"
}