{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825515973",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NP_001077377.1:p.Cys469Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7172923",
          "hgvs": "NM_001083908.2:c.1405T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389627604",
          "hgvs": "NM_001083908.2:c.1406G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150897"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=241846[alleleid]",
        "alleleId": 241846,
        "preferredName": "NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/241280",
        "RCV": [
          "RCV000234267",
          "RCV001094235",
          "RCV003389768",
          "RCV003947792"
        ],
        "variationId": 241280
      }
    ]
  },
  "type": "amino-acid"
}