{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104037",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1393,
          "referenceAllele": "L",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NP_002283.3:p.Leu1393Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA074319",
          "hgvs": "NM_002292.4:c.4177C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168161"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38466[alleleid]",
        "alleleId": 38466,
        "preferredName": "NM_002292.4(LAMB2):c.4177C>T (p.Leu1393Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242715",
        "variationId": 242715
      }
    ]
  },
  "type": "amino-acid"
}