{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915963526",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 273,
          "referenceAllele": "L",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NP_001070869.1:p.Leu273Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384900434",
          "hgvs": "NM_001077401.2:c.818T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150442"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=414388[alleleid]",
        "alleleId": 414388,
        "preferredName": "NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426017",
        "RCV": [
          "RCV000488783",
          "RCV002431425",
          "RCV003509546",
          "RCV004017643"
        ],
        "variationId": 426017
      }
    ]
  },
  "type": "amino-acid"
}