{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891845604",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 319,
          "referenceAllele": "L",
          "start": 318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_000048.1:p.Leu319Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA393841958",
          "hgvs": "NM_000057.4:c.955C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146610"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=575596[alleleid]",
        "alleleId": 575596,
        "preferredName": "NM_000057.4(BLM):c.955C>T (p.Leu319Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/584505",
        "RCV": [
          "RCV000708673",
          "RCV001205386"
        ],
        "variationId": 584505
      }
    ]
  },
  "type": "amino-acid"
}