{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828064331",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 143,
          "referenceAllele": "Y",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000343",
      "geneNCBI_id": 191,
      "geneSymbol": "AHCY",
      "hgvs": [
        "NP_001349679.1:p.Tyr143Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122806",
          "hgvs": "NM_001362750.2:c.428A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617676"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27992[alleleid]",
        "alleleId": 27992,
        "preferredName": "NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12953",
        "RCV": [
          "RCV000013819",
          "RCV000224240",
          "RCV000624639",
          "RCV000662292"
        ],
        "variationId": 12953
      }
    ]
  },
  "type": "amino-acid"
}