{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826507988",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 405,
          "referenceAllele": "N",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017098",
      "geneNCBI_id": 23405,
      "geneSymbol": "DICER1",
      "hgvs": [
        "NP_001258211.1:p.Asn405His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7331516",
          "hgvs": "NM_001271282.3:c.1213A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160981"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=464447[alleleid]",
        "alleleId": 464447,
        "preferredName": "NM_177438.3(DICER1):c.1213A>C (p.Asn405His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/477032",
        "RCV": [
          "RCV000531172",
          "RCV000574527"
        ],
        "variationId": 477032
      }
    ]
  },
  "type": "amino-acid"
}