{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580431204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 365,
          "referenceAllele": "Q",
          "start": 364
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017574",
      "geneNCBI_id": 57538,
      "geneSymbol": "ALPK3",
      "hgvs": [
        "NP_065829.4:p.Gln365Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393374391",
          "hgvs": "NM_020778.5:c.1093C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2063665[alleleid]",
        "alleleId": 2063665,
        "preferredName": "NM_020778.5(ALPK3):c.1093C>A (p.Gln365Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2010875",
        "RCV": [
          "RCV002834315"
        ],
        "variationId": 2010875
      }
    ]
  },
  "type": "amino-acid"
}