{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826129048",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "referenceAllele": "T",
          "start": 592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008743",
      "geneNCBI_id": 5122,
      "geneSymbol": "PCSK1",
      "hgvs": [
        "NP_001171346.1:p.Thr593Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3350089",
          "hgvs": "NM_001177875.2:c.1777A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156248"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=428471[alleleid]",
        "alleleId": 428471,
        "preferredName": "NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/436278",
        "RCV": [
          "RCV000503873",
          "RCV001158034",
          "RCV001700397",
          "RCV003409704"
        ],
        "variationId": 436278
      }
    ]
  },
  "type": "amino-acid"
}