{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826590074",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 382,
          "referenceAllele": "N",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001122",
      "geneNCBI_id": 686,
      "geneSymbol": "BTD",
      "hgvs": [
        "NP_001268652.2:p.Asn382Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278298",
          "hgvs": "NM_001281723.3:c.1145A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708151"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=36398[alleleid]",
        "alleleId": 36398,
        "preferredName": "NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/25062",
        "RCV": [
          "RCV000021987",
          "RCV000405919",
          "RCV002281714"
        ],
        "variationId": 25062
      }
    ]
  },
  "type": "amino-acid"
}