{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645380328",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 300,
          "referenceAllele": "H",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025244",
      "geneNCBI_id": 339829,
      "geneSymbol": "CCDC39",
      "hgvs": [
        "NP_852091.1:p.His300Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2716059",
          "hgvs": "NM_181426.2:c.900T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA355300295",
          "hgvs": "NM_181426.2:c.900T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184212"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=251032[alleleid]",
        "alleleId": 251032,
        "preferredName": "NM_181426.2(CCDC39):c.900T>A (p.His300Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/262977",
        "RCV": [
          "RCV000246808",
          "RCV000370071",
          "RCV001094894"
        ],
        "variationId": 262977
      }
    ]
  },
  "type": "amino-acid"
}