{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA096509",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 300,
          "referenceAllele": "C",
          "start": 299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017978",
      "geneNCBI_id": 126792,
      "geneSymbol": "B3GALT6",
      "hgvs": [
        "NP_542172.2:p.Cys300Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA144525",
          "hgvs": "NM_080605.3:c.899G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA337830293",
          "hgvs": "NM_080605.3:c.898T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180706"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75082[alleleid]",
        "alleleId": 75082,
        "preferredName": "NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/60487",
        "RCV": [
          "RCV000054393"
        ],
        "variationId": 60487
      }
    ]
  },
  "type": "amino-acid"
}