{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091101",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 398,
          "referenceAllele": "I",
          "start": 397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NP_000011.2:p.Ile398Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254377",
          "hgvs": "NM_000020.3:c.1193T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23287[alleleid]",
        "alleleId": 23287,
        "preferredName": "NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8248",
        "RCV": [
          "RCV000008732"
        ],
        "variationId": 8248
      }
    ]
  },
  "type": "amino-acid"
}