{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825547224",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 545,
          "referenceAllele": "F",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020917",
      "geneNCBI_id": 80216,
      "geneSymbol": "ALPK1",
      "hgvs": [
        "NP_001095876.1:p.Phe545Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3046765",
          "hgvs": "NM_001102406.2:c.1633T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357895779",
          "hgvs": "NM_001102406.2:c.1635T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357895780",
          "hgvs": "NM_001102406.2:c.1635T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS151456"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1923536[alleleid]",
        "alleleId": 1923536,
        "preferredName": "NM_025144.4(ALPK1):c.1633T>C (p.Phe545Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2196063",
        "RCV": [
          "RCV002633378"
        ],
        "variationId": 2196063
      }
    ]
  },
  "type": "amino-acid"
}