{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741874626",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 80,
          "referenceAllele": "G",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002953",
      "geneNCBI_id": 1770,
      "geneSymbol": "DNAH9",
      "hgvs": [
        "NP_001363.2:p.Gly80Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8394468",
          "hgvs": "NM_001372.4:c.238G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167308"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3019436[alleleid]",
        "alleleId": 3019436,
        "preferredName": "NM_001372.4(DNAH9):c.238G>T (p.Gly80Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2863249",
        "RCV": [
          "RCV003700211"
        ],
        "variationId": 2863249
      }
    ]
  },
  "type": "amino-acid"
}