{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826959512",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 581,
          "referenceAllele": "S",
          "start": 580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "NP_001303701.1:p.Ser581Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA276142",
          "hgvs": "NM_001316772.1:c.1742C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167083"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205754[alleleid]",
        "alleleId": 205754,
        "preferredName": "NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/209157",
        "RCV": [
          "RCV000191089",
          "RCV000790259",
          "RCV000860828",
          "RCV004020306"
        ],
        "variationId": 209157
      }
    ]
  },
  "type": "amino-acid"
}