{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA287073",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 788,
          "referenceAllele": "L",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_000048.1:p.Leu788Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA287071",
          "hgvs": "NM_000057.4:c.2362C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146610"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132942[alleleid]",
        "alleleId": 132942,
        "preferredName": "NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127485",
        "RCV": [
          "RCV000115292",
          "RCV000564057",
          "RCV001082972",
          "RCV001818263",
          "RCV003407494"
        ],
        "variationId": 127485
      }
    ]
  },
  "type": "amino-acid"
}