{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825929437",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 644,
          "referenceAllele": "Q",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NP_001139761.1:p.Gln644Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA801637",
          "hgvs": "NM_001146289.2:c.1930C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154412"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=448116[alleleid]",
        "alleleId": 448116,
        "preferredName": "NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/468979",
        "RCV": [
          "RCV000547688",
          "RCV001099454",
          "RCV001539895"
        ],
        "variationId": 468979
      }
    ]
  },
  "type": "amino-acid"
}