{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826589542",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 77,
          "referenceAllele": "V",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001268652.2:p.Val77Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351604118",
          "hgvs": "NM_001281723.3:c.229G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2894485[alleleid]",
        "alleleId": 2894485,
        "preferredName": "NM_001370658.1(BTD):c.229G>A (p.Val77Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734448",
        "RCV": [
          "RCV003499921"
        ],
        "variationId": 2734448
      }
    ]
  },
  "type": "amino-acid"
}