{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830405531",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 475,
          "referenceAllele": "V",
          "start": 474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NP_870986.1:p.Val475Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1143975",
          "hgvs": "NM_181871.4:c.1423G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=237092[alleleid]",
        "alleleId": 237092,
        "preferredName": "NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/235407",
        "RCV": [
          "RCV000224042",
          "RCV000764981",
          "RCV001095923",
          "RCV003929928"
        ],
        "variationId": 235407
      }
    ]
  },
  "type": "amino-acid"
}