{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA092225",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 40,
          "referenceAllele": "S",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016644",
      "geneNCBI_id": 387733,
      "geneSymbol": "IFITM5",
      "hgvs": [
        "NP_001020466.1:p.Ser40Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA186137",
          "hgvs": "NM_001025295.3:c.119C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149352"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181576[alleleid]",
        "alleleId": 181576,
        "preferredName": "NM_001025295.3(IFITM5):c.119C>T (p.Ser40Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183677",
        "RCV": [
          "RCV000162330",
          "RCV000351373"
        ],
        "variationId": 183677
      }
    ]
  },
  "type": "amino-acid"
}