{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825964079",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54,
          "referenceAllele": "Y",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001160",
      "geneNCBI_id": 56652,
      "geneSymbol": "TWNK",
      "hgvs": [
        "NP_001157286.1:p.Tyr54Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA324445",
          "hgvs": "NM_001163814.2:c.161A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19666[alleleid]",
        "alleleId": 19666,
        "preferredName": "NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4627",
        "RCV": [
          "RCV000020865",
          "RCV000199894"
        ],
        "variationId": 4627
      }
    ]
  },
  "type": "amino-acid"
}