{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828169374",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_001352064.1:p.Cys389Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221144",
          "hgvs": "NM_001365135.1:c.1167T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657563"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99220[alleleid]",
        "alleleId": 99220,
        "preferredName": "NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93313",
        "RCV": [
          "RCV000178118",
          "RCV000984310",
          "RCV000984311"
        ],
        "variationId": 93313
      }
    ]
  },
  "type": "amino-acid"
}