{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139737673",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 281,
          "referenceAllele": "H",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020188",
      "geneNCBI_id": 55172,
      "geneSymbol": "DNAAF2",
      "hgvs": [
        "NP_060609.2:p.His281Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7173012",
          "hgvs": "NM_018139.3:c.843T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389630147",
          "hgvs": "NM_018139.3:c.843T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176014"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=841521[alleleid]",
        "alleleId": 841521,
        "preferredName": "NM_018139.3(DNAAF2):c.843T>A (p.His281Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/852203",
        "RCV": [
          "RCV001056765"
        ],
        "variationId": 852203
      }
    ]
  },
  "type": "amino-acid"
}