{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645427424",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 983,
          "referenceAllele": "Q",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NP_003631.2:p.Gln983Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5174492",
          "hgvs": "NM_003640.5:c.2948A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169412"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243832[alleleid]",
        "alleleId": 243832,
        "preferredName": "NM_003640.5(ELP1):c.2948A>T (p.Gln983Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242310",
        "RCV": [
          "RCV000229285",
          "RCV000798294",
          "RCV004020905"
        ],
        "variationId": 242310
      }
    ]
  },
  "type": "amino-acid"
}