{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826277466",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 246,
          "referenceAllele": "E",
          "start": 245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001077",
      "geneNCBI_id": 658,
      "geneSymbol": "BMPR1B",
      "hgvs": [
        "NP_001194.1:p.Glu246Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA101663789",
          "hgvs": "NM_001203.3:c.737A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158455"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2029610[alleleid]",
        "alleleId": 2029610,
        "preferredName": "NM_001203.3(BMPR1B):c.737A>C (p.Glu246Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1972181",
        "RCV": [
          "RCV002745989",
          "RCV004067802"
        ],
        "variationId": 1972181
      }
    ]
  },
  "type": "amino-acid"
}