{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830380635",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 180,
          "referenceAllele": "R",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009571",
      "geneNCBI_id": 9491,
      "geneSymbol": "PSMF1",
      "hgvs": [
        "NP_848693.2:p.Arg180Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9726103",
          "hgvs": "NM_178578.4:c.539G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184114"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2288527[alleleid]",
        "alleleId": 2288527,
        "preferredName": "NM_006814.5(PSMF1):c.539G>A (p.Arg180Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2300467",
        "RCV": [
          "RCV004152059"
        ],
        "variationId": 2300467
      }
    ]
  },
  "type": "amino-acid"
}