{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830428059",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 2374,
          "referenceAllele": "R",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
        "NP_937762.2:p.Arg2374Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8916556",
          "hgvs": "NM_198129.4:c.7121G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184946"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=348001[alleleid]",
        "alleleId": 348001,
        "preferredName": "NM_198129.4(LAMA3):c.7121G>A (p.Arg2374Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/326313",
        "RCV": [
          "RCV000269259",
          "RCV000364926",
          "RCV002521135"
        ],
        "variationId": 326313
      }
    ]
  },
  "type": "amino-acid"
}