{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA241588",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 66,
          "referenceAllele": "E",
          "start": 65
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NP_005553.2:p.Glu66Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA241587",
          "hgvs": "NM_005562.3:c.196G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171188"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192407[alleleid]",
        "alleleId": 192407,
        "preferredName": "NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195246",
        "RCV": [
          "RCV000175807",
          "RCV000283518",
          "RCV001731418"
        ],
        "variationId": 195246
      }
    ]
  },
  "type": "amino-acid"
}