{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573074801",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 44,
          "referenceAllele": "P",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006215",
      "geneNCBI_id": 3735,
      "geneSymbol": "KARS1",
      "hgvs": [
        "NP_001365077.1:p.Pro44Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA358202",
          "hgvs": "NM_001378148.1:c.131C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734743"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226957[alleleid]",
        "alleleId": 226957,
        "preferredName": "NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224983",
        "RCV": [
          "RCV000986183",
          "RCV001265601",
          "RCV002463662",
          "RCV003147413",
          "RCV000210691",
          "RCV000681462",
          "RCV001293661",
          "RCV001293662",
          "RCV001526444",
          "RCV001775672"
        ],
        "variationId": 224983
      }
    ]
  },
  "type": "amino-acid"
}