{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108770",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 318,
          "referenceAllele": "A",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001160",
      "geneNCBI_id": 56652,
      "geneSymbol": "TWNK",
      "hgvs": [
        "NP_068602.2:p.Ala318Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA342356",
          "hgvs": "NM_021830.4:c.952G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177581"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19669[alleleid]",
        "alleleId": 19669,
        "preferredName": "NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4630",
        "RCV": [
          "RCV000020866",
          "RCV002251876"
        ],
        "variationId": 4630
      }
    ]
  },
  "type": "amino-acid"
}