{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916073435",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 102,
          "referenceAllele": "V",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009948",
      "geneNCBI_id": 5965,
      "geneSymbol": "RECQL",
      "hgvs": [
        "NP_116559.1:p.Val102Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6479136",
          "hgvs": "NM_032941.3:c.304G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179929"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=504326[alleleid]",
        "alleleId": 504326,
        "preferredName": "NM_002907.4(RECQL):c.304G>A (p.Val102Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/506629",
        "RCV": [
          "RCV000605901",
          "RCV001514375"
        ],
        "variationId": 506629
      }
    ]
  },
  "type": "amino-acid"
}