{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057674738",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 237,
          "referenceAllele": "Q",
          "start": 236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NP_061486.2:p.Gln237Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA33967363",
          "hgvs": "NM_018891.3:c.709C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176436"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3987539[alleleid]",
        "alleleId": 3987539,
        "preferredName": "NM_005562.3(LAMC2):c.709C>A (p.Gln237Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3866356",
        "RCV": [
          "RCV005355353"
        ],
        "variationId": 3866356
      }
    ]
  },
  "type": "amino-acid"
}