{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091065",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 374,
          "referenceAllele": "R",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NP_000011.2:p.Arg374Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16614168",
          "hgvs": "NM_000020.3:c.1121G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=399783[alleleid]",
        "alleleId": 399783,
        "preferredName": "NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/411314",
        "RCV": [
          "RCV000467491",
          "RCV000488746",
          "RCV001576840",
          "RCV002436455"
        ],
        "variationId": 411314
      }
    ]
  },
  "type": "amino-acid"
}