{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA182964",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 100,
          "referenceAllele": "L",
          "start": 99
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023247",
      "geneNCBI_id": 83544,
      "geneSymbol": "DNAL1",
      "hgvs": [
        "NP_001188295.1:p.Leu100Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA182963",
          "hgvs": "NM_001201366.2:c.298C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS157788"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176085[alleleid]",
        "alleleId": 176085,
        "preferredName": "NM_031427.4(DNAL1):c.415C>G (p.Leu139Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/178765",
        "RCV": [
          "RCV000155525",
          "RCV000723999",
          "RCV001088090"
        ],
        "variationId": 178765
      }
    ]
  },
  "type": "amino-acid"
}