{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916015844",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 348,
          "referenceAllele": "M",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_001274176.1:p.Met348Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7738414",
          "hgvs": "NM_001287247.2:c.1044G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393842167",
          "hgvs": "NM_001287247.2:c.1044G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393842168",
          "hgvs": "NM_001287247.2:c.1044G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163750"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=401257[alleleid]",
        "alleleId": 401257,
        "preferredName": "NM_000057.4(BLM):c.1044G>A (p.Met348Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=569678[alleleid]",
        "alleleId": 569678,
        "preferredName": "NM_000057.4(BLM):c.1044G>T (p.Met348Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/413284",
        "RCV": [
          "RCV000566370",
          "RCV000590533",
          "RCV001080152",
          "RCV001030683",
          "RCV003151068",
          "RCV003899947"
        ],
        "variationId": 413284
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/567994",
        "RCV": [
          "RCV000688216",
          "RCV003163119"
        ],
        "variationId": 567994
      }
    ]
  },
  "type": "amino-acid"
}