{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139684222",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 45,
          "referenceAllele": "V",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000129",
      "geneNCBI_id": 58,
      "geneSymbol": "ACTA1",
      "hgvs": [
        "NP_001091.1:p.Val45Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA345151077",
          "hgvs": "NM_001100.4:c.133G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150996"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=823511[alleleid]",
        "alleleId": 823511,
        "preferredName": "NM_001100.4(ACTA1):c.133G>A (p.Val45Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/861879",
        "RCV": [
          "RCV001068492"
        ],
        "variationId": 861879
      }
    ]
  },
  "type": "amino-acid"
}