{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829602381",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1037,
          "referenceAllele": "D",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NP_005553.2:p.Asp1037Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1283159",
          "hgvs": "NM_005562.3:c.3109G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171188"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2136902[alleleid]",
        "alleleId": 2136902,
        "preferredName": "NM_005562.3(LAMC2):c.3109G>T (p.Asp1037Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2085543",
        "RCV": [
          "RCV003005121"
        ],
        "variationId": 2085543
      }
    ]
  },
  "type": "amino-acid"
}