{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3249458716",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 821,
          "referenceAllele": "T",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006482",
      "geneNCBI_id": 3908,
      "geneSymbol": "LAMA2",
      "hgvs": [
        "NP_001073291.2:p.Thr821Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA365609293",
          "hgvs": "NM_001079823.2:c.2462C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706643"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4799158[alleleid]",
        "alleleId": 4799158,
        "preferredName": "NM_000426.4(LAMA2):c.2462C>A (p.Thr821Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4687688",
        "RCV": [
          "RCV006453991"
        ],
        "variationId": 4687688
      }
    ]
  },
  "type": "amino-acid"
}