{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499260835",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 801,
          "referenceAllele": "R",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006486",
      "geneNCBI_id": 3912,
      "geneSymbol": "LAMB1",
      "hgvs": [
        "NP_002282.2:p.Arg801Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4435651",
          "hgvs": "NM_002291.3:c.2402G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168160"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016836[alleleid]",
        "alleleId": 1016836,
        "preferredName": "NM_002291.3(LAMB1):c.2402G>A (p.Arg801Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029433",
        "RCV": [
          "RCV001330709"
        ],
        "variationId": 1029433
      }
    ]
  },
  "type": "amino-acid"
}