{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828287577",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 249,
          "referenceAllele": "G",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011277",
      "geneNCBI_id": 10558,
      "geneSymbol": "SPTLC1",
      "hgvs": [
        "NP_001355201.1:p.Gly249Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5121315",
          "hgvs": "NM_001368272.1:c.745G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA373792138",
          "hgvs": "NM_001368272.1:c.745G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707152"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=737235[alleleid]",
        "alleleId": 737235,
        "preferredName": "NM_006415.4(SPTLC1):c.1111G>A (p.Gly371Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/732005",
        "RCV": [
          "RCV000907066"
        ],
        "variationId": 732005
      }
    ]
  },
  "type": "amino-acid"
}