{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139718442",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 792,
          "referenceAllele": "V",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005959",
      "geneNCBI_id": 8518,
      "geneSymbol": "ELP1",
      "hgvs": [
        "NP_003631.2:p.Val792Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA197533297",
          "hgvs": "NM_003640.5:c.2374G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169412"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=978529[alleleid]",
        "alleleId": 978529,
        "preferredName": "NM_003640.5(ELP1):c.2374G>A (p.Val792Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/990647",
        "RCV": [
          "RCV001278709",
          "RCV002541690",
          "RCV002480903",
          "RCV004035474"
        ],
        "variationId": 990647
      }
    ]
  },
  "type": "amino-acid"
}