{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916005874",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 188,
          "referenceAllele": "W",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021308",
      "geneNCBI_id": 60481,
      "geneSymbol": "ELOVL5",
      "hgvs": [
        "NP_001229759.1:p.Trp188Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA170635",
          "hgvs": "NM_001242830.2:c.564G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA364474318",
          "hgvs": "NM_001242830.2:c.564G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153826[alleleid]",
        "alleleId": 153826,
        "preferredName": "NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/144075",
        "RCV": [
          "RCV000133587"
        ],
        "variationId": 144075
      }
    ]
  },
  "type": "amino-acid"
}