{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499285442",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 618,
          "referenceAllele": "I",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011976",
      "geneNCBI_id": 7148,
      "geneSymbol": "TNXB",
      "hgvs": [
        "NP_061978.6:p.Ile618Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3735609",
          "hgvs": "NM_019105.8:c.1854C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176622"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1037709[alleleid]",
        "alleleId": 1037709,
        "preferredName": "NM_001365276.2(TNXB):c.1854C>G (p.Ile618Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1049689",
        "RCV": [
          "RCV001356123",
          "RCV002413841"
        ],
        "variationId": 1049689
      }
    ]
  },
  "type": "amino-acid"
}