{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139705330",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 323,
          "referenceAllele": "Y",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004422",
      "geneNCBI_id": 2799,
      "geneSymbol": "GNS",
      "hgvs": [
        "NP_002067.1:p.Tyr323Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA238287100",
          "hgvs": "NM_002076.4:c.968A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167952"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=840220[alleleid]",
        "alleleId": 840220,
        "preferredName": "NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/850328",
        "RCV": [
          "RCV001054475",
          "RCV001274495"
        ],
        "variationId": 850328
      }
    ]
  },
  "type": "amino-acid"
}