{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA287147",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 232,
          "referenceAllele": "S",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NP_000048.1:p.Ser232Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA287145",
          "hgvs": "NM_000057.4:c.696C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393841357",
          "hgvs": "NM_000057.4:c.694A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA393841362",
          "hgvs": "NM_000057.4:c.696C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146610"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132971[alleleid]",
        "alleleId": 132971,
        "preferredName": "NM_000057.4(BLM):c.696C>A (p.Ser232Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127514",
        "RCV": [
          "RCV000115322",
          "RCV000326657",
          "RCV001025851"
        ],
        "variationId": 127514
      }
    ]
  },
  "type": "amino-acid"
}