{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA240290",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 652,
          "referenceAllele": "S",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NP_001360.1:p.Ser652Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA240289",
          "hgvs": "NM_001369.3:c.1955G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191527[alleleid]",
        "alleleId": 191527,
        "preferredName": "NM_001369.3(DNAH5):c.1955G>A (p.Ser652Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194364",
        "RCV": [
          "RCV000174718",
          "RCV000820524"
        ],
        "variationId": 194364
      }
    ]
  },
  "type": "amino-acid"
}