{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828462988",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "referenceAllele": "V",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002896",
      "geneNCBI_id": 1737,
      "geneSymbol": "DLAT",
      "hgvs": [
        "NP_001358964.1:p.Val318Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA152578",
          "hgvs": "NM_001372035.1:c.953T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3054209091",
          "hgvs": "NM_001372035.1:c.953_954delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708606"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134346[alleleid]",
        "alleleId": 134346,
        "preferredName": "NM_001931.5(DLAT):c.953T>C (p.Val318Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128899",
        "RCV": [
          "RCV000116879",
          "RCV000676208",
          "RCV001516164"
        ],
        "variationId": 128899
      }
    ]
  },
  "type": "amino-acid"
}