{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA204607",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 125,
          "referenceAllele": "E",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004162",
      "geneNCBI_id": 2617,
      "geneSymbol": "GARS1",
      "hgvs": [
        "NP_002038.2:p.Glu125Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204605",
          "hgvs": "NM_002047.4:c.373G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167927"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205253[alleleid]",
        "alleleId": 205253,
        "preferredName": "NM_002047.4(GARS1):c.373G>A (p.Glu125Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208650",
        "RCV": [
          "RCV000190657",
          "RCV001260977"
        ],
        "variationId": 208650
      }
    ]
  },
  "type": "amino-acid"
}