{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580499711",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 108,
          "referenceAllele": "R",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000758",
      "geneNCBI_id": 445,
      "geneSymbol": "ASS1",
      "hgvs": [
        "NP_446464.1:p.Arg108Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5283225",
          "hgvs": "NM_054012.4:c.323G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180535"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1906305[alleleid]",
        "alleleId": 1906305,
        "preferredName": "NM_054012.4(ASS1):c.323G>A (p.Arg108Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2167184",
        "RCV": [
          "RCV003080456"
        ],
        "variationId": 2167184
      }
    ]
  },
  "type": "amino-acid"
}