{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828448616",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 42,
          "referenceAllele": "V",
          "start": 41
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001357681.1:p.Val42Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2277257",
          "hgvs": "NM_001370752.1:c.125T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708153"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3077458[alleleid]",
        "alleleId": 3077458,
        "preferredName": "NM_001370658.1(BTD):c.125T>C (p.Val42Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2918707",
        "RCV": [
          "RCV003601990"
        ],
        "variationId": 2918707
      }
    ]
  },
  "type": "amino-acid"
}