{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645426041",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 722,
          "referenceAllele": "Q",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019316",
      "geneNCBI_id": 64175,
      "geneSymbol": "P3H1",
      "hgvs": [
        "NP_071751.3:p.Gln722Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA801502",
          "hgvs": "NM_022356.4:c.2164C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177811"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272443[alleleid]",
        "alleleId": 272443,
        "preferredName": "NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288206",
        "RCV": [
          "RCV000354246",
          "RCV000810347",
          "RCV002307480"
        ],
        "variationId": 288206
      }
    ]
  },
  "type": "amino-acid"
}