{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658672469",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 23,
          "referenceAllele": "Y",
          "start": 22
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NP_006406.1:p.Tyr23Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA373795895",
          "hgvs": "NM_006415.4:c.68A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171966"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=444532[alleleid]",
        "alleleId": 444532,
        "preferredName": "NM_006415.4(SPTLC1):c.68A>T (p.Tyr23Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/450572",
        "RCV": [
          "RCV000522579",
          "RCV001267702",
          "RCV003152607"
        ],
        "variationId": 450572
      }
    ]
  },
  "type": "amino-acid"
}