{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915963815",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 478,
          "referenceAllele": "A",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NP_001070869.1:p.Ala478Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384905673",
          "hgvs": "NM_001077401.2:c.1433C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150442"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414405[alleleid]",
        "alleleId": 414405,
        "preferredName": "NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426034",
        "RCV": [
          "RCV000488621"
        ],
        "variationId": 426034
      }
    ]
  },
  "type": "amino-acid"
}