{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645429411",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 484,
          "referenceAllele": "R",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NP_001070869.1:p.Arg484Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA323134",
          "hgvs": "NM_001077401.2:c.1451G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150442"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210238[alleleid]",
        "alleleId": 210238,
        "preferredName": "NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/212796",
        "RCV": [
          "RCV000198604",
          "RCV000414952",
          "RCV000502469",
          "RCV000488871",
          "RCV000506673",
          "RCV001003757",
          "RCV002390510"
        ],
        "variationId": 212796
      }
    ]
  },
  "type": "amino-acid"
}