{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828108690",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 297,
          "referenceAllele": "P",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000735",
      "geneNCBI_id": 427,
      "geneSymbol": "ASAH1",
      "hgvs": [
        "NP_001350672.1:p.Pro297Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA370426988",
          "hgvs": "NM_001363743.1:c.890C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617954"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=800715[alleleid]",
        "alleleId": 800715,
        "preferredName": "NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/812498",
        "RCV": [
          "RCV001003328",
          "RCV001860537"
        ],
        "variationId": 812498
      }
    ]
  },
  "type": "amino-acid"
}