{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499248093",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1120,
          "referenceAllele": "H",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018150",
      "geneNCBI_id": 84700,
      "geneSymbol": "MYO18B",
      "hgvs": [
        "NP_001305174.1:p.His1120Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10160531",
          "hgvs": "NM_001318245.2:c.3360C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410998098",
          "hgvs": "NM_001318245.2:c.3360C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS656135"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1269937[alleleid]",
        "alleleId": 1269937,
        "preferredName": "NM_032608.7(MYO18B):c.3357C>A (p.His1119Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1280072",
        "RCV": [
          "RCV001695224",
          "RCV001779319"
        ],
        "variationId": 1280072
      }
    ]
  },
  "type": "amino-acid"
}