{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA091126",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "W",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000175",
      "geneNCBI_id": 94,
      "geneSymbol": "ACVRL1",
      "hgvs": [
        "NP_000011.2:p.Trp50Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254373",
          "hgvs": "NM_000020.3:c.150G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA384897711",
          "hgvs": "NM_000020.3:c.150G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146573"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23285[alleleid]",
        "alleleId": 23285,
        "preferredName": "NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1484638[alleleid]",
        "alleleId": 1484638,
        "preferredName": "NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8246",
        "RCV": [
          "RCV000008730",
          "RCV001557555",
          "RCV002390097"
        ],
        "variationId": 8246
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1459447",
        "RCV": [
          "RCV001959004"
        ],
        "variationId": 1459447
      }
    ]
  },
  "type": "amino-acid"
}