{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645485712",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 150,
          "referenceAllele": "W",
          "start": 149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016253",
      "geneNCBI_id": 55304,
      "geneSymbol": "SPTLC3",
      "hgvs": [
        "NP_060797.2:p.Trp150Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9765701",
          "hgvs": "NM_018327.4:c.448T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA408267297",
          "hgvs": "NM_018327.4:c.448T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176179"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244165[alleleid]",
        "alleleId": 244165,
        "preferredName": "NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/243088",
        "RCV": [
          "RCV000235090"
        ],
        "variationId": 243088
      }
    ]
  },
  "type": "amino-acid"
}