{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827334333",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 840,
          "referenceAllele": "K",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NP_001317139.1:p.Lys840Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10352116",
          "hgvs": "NM_001330210.2:c.2520G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412314452",
          "hgvs": "NM_001330210.2:c.2520G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624532"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1875821[alleleid]",
        "alleleId": 1875821,
        "preferredName": "NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2142621",
        "RCV": [
          "RCV003076358"
        ],
        "variationId": 2142621
      }
    ]
  },
  "type": "amino-acid"
}