{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828462402",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 43,
          "referenceAllele": "A",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002896",
      "geneNCBI_id": 1737,
      "geneSymbol": "DLAT",
      "hgvs": [
        "NP_001358963.1:p.Ala43Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA152574",
          "hgvs": "NM_001372034.1:c.128C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708608"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134344[alleleid]",
        "alleleId": 134344,
        "preferredName": "NM_001931.5(DLAT):c.128C>T (p.Ala43Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128897",
        "RCV": [
          "RCV000116877",
          "RCV000676203",
          "RCV001510014"
        ],
        "variationId": 128897
      }
    ]
  },
  "type": "amino-acid"
}