{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827333897",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NP_001317139.1:p.Gly553Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10351928",
          "hgvs": "NM_001330210.2:c.1658G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624532"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1195703[alleleid]",
        "alleleId": 1195703,
        "preferredName": "NM_003611.3(OFD1):c.2078G>A (p.Gly693Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1205597",
        "RCV": [
          "RCV001572305",
          "RCV001866038",
          "RCV001821904"
        ],
        "variationId": 1205597
      }
    ]
  },
  "type": "amino-acid"
}