{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916022075",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 49,
          "referenceAllele": "S",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002771",
      "geneNCBI_id": 1675,
      "geneSymbol": "CFD",
      "hgvs": [
        "NP_001304264.1:p.Ser49Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402920654",
          "hgvs": "NM_001317335.2:c.146C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640096"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=624673[alleleid]",
        "alleleId": 624673,
        "preferredName": "NM_001928.4(CFD):c.125C>T (p.Ser42Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/636410",
        "RCV": [
          "RCV000788228"
        ],
        "variationId": 636410
      }
    ]
  },
  "type": "amino-acid"
}