{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827400914",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 206,
          "referenceAllele": "R",
          "start": 205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NP_001334592.1:p.Arg206His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128036",
          "hgvs": "NM_001347663.1:c.617G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618426"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=33348[alleleid]",
        "alleleId": 33348,
        "preferredName": "NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/18309",
        "RCV": [
          "RCV000019971",
          "RCV000422441",
          "RCV001267285",
          "RCV001823099",
          "RCV003904851"
        ],
        "variationId": 18309
      }
    ]
  },
  "type": "amino-acid"
}