{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658829377",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 233,
          "referenceAllele": "T",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014415",
      "geneNCBI_id": 6785,
      "geneSymbol": "ELOVL4",
      "hgvs": [
        "NP_073563.1:p.Thr233Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA364656044",
          "hgvs": "NM_022726.4:c.698C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=537497[alleleid]",
        "alleleId": 537497,
        "preferredName": "NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/547008",
        "RCV": [
          "RCV000659060",
          "RCV001809734",
          "RCV003994070"
        ],
        "variationId": 547008
      }
    ]
  },
  "type": "amino-acid"
}