{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580169985",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 621,
          "referenceAllele": "T",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001078",
      "geneNCBI_id": 659,
      "geneSymbol": "BMPR2",
      "hgvs": [
        "NP_001195.2:p.Thr621Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2061461",
          "hgvs": "NM_001204.7:c.1862C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158461"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1881917[alleleid]",
        "alleleId": 1881917,
        "preferredName": "NM_001204.7(BMPR2):c.1862C>T (p.Thr621Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2151750",
        "RCV": [
          "RCV003078969"
        ],
        "variationId": 2151750
      }
    ]
  },
  "type": "amino-acid"
}