{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645462225",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 331,
          "referenceAllele": "S",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NP_006406.1:p.Ser331Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16042656",
          "hgvs": "NM_006415.4:c.992C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171966"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=359759[alleleid]",
        "alleleId": 359759,
        "preferredName": "NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372788",
        "RCV": [
          "RCV000414705",
          "RCV000790228",
          "RCV000795948",
          "RCV001249813",
          "RCV003152600"
        ],
        "variationId": 372788
      }
    ]
  },
  "type": "amino-acid"
}