{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827401378",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 328,
          "referenceAllele": "G",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000171",
      "geneNCBI_id": 90,
      "geneSymbol": "ACVR1",
      "hgvs": [
        "NP_001334594.1:p.Gly328Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16602802",
          "hgvs": "NM_001347665.1:c.983G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618017"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=363242[alleleid]",
        "alleleId": 363242,
        "preferredName": "NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/376363",
        "RCV": [
          "RCV000445088",
          "RCV003761969"
        ],
        "variationId": 376363
      }
    ]
  },
  "type": "amino-acid"
}