{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499245516",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 8,
          "referenceAllele": "A",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NP_001271219.1:p.Ala8Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4276757",
          "hgvs": "NM_001284290.2:c.22G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163011"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1045102[alleleid]",
        "alleleId": 1045102,
        "preferredName": "NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1064312",
        "RCV": [
          "RCV001374264",
          "RCV002550191"
        ],
        "variationId": 1064312
      }
    ]
  },
  "type": "amino-acid"
}