{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828169452",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 425,
          "referenceAllele": "Y",
          "start": 424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011120",
      "geneNCBI_id": 6609,
      "geneSymbol": "SMPD1",
      "hgvs": [
        "NP_001352064.1:p.Tyr425Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252530",
          "hgvs": "NM_001365135.1:c.1274A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657563"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18035[alleleid]",
        "alleleId": 18035,
        "preferredName": "NM_000543.5(SMPD1):c.1406A>C (p.Tyr469Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2996",
        "RCV": [
          "RCV000003131",
          "RCV001379382"
        ],
        "variationId": 2996
      }
    ]
  },
  "type": "amino-acid"
}