{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573185316",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 86,
          "referenceAllele": "S",
          "start": 85
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001248",
      "geneNCBI_id": 717,
      "geneSymbol": "C2",
      "hgvs": [
        "NP_001171534.1:p.Ser86Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA136929237",
          "hgvs": "NM_001178063.3:c.257C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156300"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27167[alleleid]",
        "alleleId": 27167,
        "preferredName": "NM_000063.6(C2):c.626C>T (p.Ser209Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12128",
        "RCV": [
          "RCV000012911"
        ],
        "variationId": 12128
      }
    ]
  },
  "type": "amino-acid"
}