{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109412",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 133,
          "referenceAllele": "C",
          "start": 132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NP_006406.1:p.Cys133Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340286",
          "hgvs": "NM_006415.4:c.398G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171966"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19839[alleleid]",
        "alleleId": 19839,
        "preferredName": "NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4800",
        "RCV": [
          "RCV000005067",
          "RCV001027483",
          "RCV001249800",
          "RCV002512792"
        ],
        "variationId": 4800
      }
    ]
  },
  "type": "amino-acid"
}