{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA209266",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 260,
          "referenceAllele": "Y",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021308",
      "geneNCBI_id": 60481,
      "geneSymbol": "ELOVL5",
      "hgvs": [
        "NP_001229757.1:p.Tyr260Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA209264",
          "hgvs": "NM_001242828.1:c.779A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158743"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207421[alleleid]",
        "alleleId": 207421,
        "preferredName": "NM_021814.5(ELOVL5):c.698A>G (p.Tyr233Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210935",
        "RCV": [
          "RCV000194832",
          "RCV000898740",
          "RCV001270037"
        ],
        "variationId": 210935
      }
    ]
  },
  "type": "amino-acid"
}