{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA118645",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 443,
          "referenceAllele": "I",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001059",
      "geneNCBI_id": 642,
      "geneSymbol": "BLMH",
      "hgvs": [
        "NP_000377.1:p.Ile443Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118644",
          "hgvs": "NM_000386.4:c.1327A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146929"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22287[alleleid]",
        "alleleId": 22287,
        "preferredName": "NM_000386.4(BLMH):c.1327A>G (p.Ile443Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7248",
        "RCV": [
          "RCV000007670"
        ],
        "variationId": 7248
      }
    ]
  },
  "type": "amino-acid"
}