{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645389480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 189,
          "referenceAllele": "L",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006848",
      "geneNCBI_id": 4214,
      "geneSymbol": "MAP3K1",
      "hgvs": [
        "NP_005912.1:p.Leu189Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA359802147",
          "hgvs": "NM_005921.2:c.566T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171512"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=424269[alleleid]",
        "alleleId": 424269,
        "preferredName": "NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/430731",
        "RCV": [
          "RCV000495856",
          "RCV000624691"
        ],
        "variationId": 430731
      }
    ]
  },
  "type": "amino-acid"
}