{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096213",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 8,
          "referenceAllele": "R",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016512",
      "geneNCBI_id": 7809,
      "geneSymbol": "BSND",
      "hgvs": [
        "NP_476517.1:p.Arg8Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116806",
          "hgvs": "NM_057176.3:c.22C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19420[alleleid]",
        "alleleId": 19420,
        "preferredName": "NM_057176.3(BSND):c.22C>T (p.Arg8Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4381",
        "RCV": [
          "RCV000004631",
          "RCV001051021",
          "RCV001273324"
        ],
        "variationId": 4381
      }
    ]
  },
  "type": "amino-acid"
}