{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA279420",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 50,
          "referenceAllele": "H",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NP_003602.1:p.His50Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA279419",
          "hgvs": "NM_003611.3:c.149A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169384"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214374[alleleid]",
        "alleleId": 214374,
        "preferredName": "NM_003611.3(OFD1):c.149A>G (p.His50Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217687",
        "RCV": [
          "RCV000201618",
          "RCV001307208",
          "RCV002307444"
        ],
        "variationId": 217687
      }
    ]
  },
  "type": "amino-acid"
}