{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580479417",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 182,
          "referenceAllele": "E",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001334",
      "geneNCBI_id": 10826,
      "geneSymbol": "FAXDC2",
      "hgvs": [
        "NP_115761.2:p.Glu182Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3527707",
          "hgvs": "NM_032385.5:c.544G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179569"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2211448[alleleid]",
        "alleleId": 2211448,
        "preferredName": "NM_032385.5(FAXDC2):c.544G>A (p.Glu182Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2224140",
        "RCV": [
          "RCV004090675"
        ],
        "variationId": 2224140
      }
    ]
  },
  "type": "amino-acid"
}