{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221148",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 476,
          "referenceAllele": "R",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_000534.3:p.Arg476Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221147",
          "hgvs": "NM_000543.5:c.1426C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147078"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99222[alleleid]",
        "alleleId": 99222,
        "preferredName": "NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93315",
        "RCV": [
          "RCV000169170",
          "RCV000178791",
          "RCV000192226",
          "RCV000688387",
          "RCV000781863",
          "RCV003925040"
        ],
        "variationId": 93315
      }
    ]
  },
  "type": "amino-acid"
}