{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827333547",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 294,
          "referenceAllele": "M",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NP_001317139.1:p.Met294Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412342682",
          "hgvs": "NM_001330210.2:c.880A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624532"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1904477[alleleid]",
        "alleleId": 1904477,
        "preferredName": "NM_003611.3(OFD1):c.1300A>G (p.Met434Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2174404",
        "RCV": [
          "RCV002598892"
        ],
        "variationId": 2174404
      }
    ]
  },
  "type": "amino-acid"
}