{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830492691",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 2787,
          "referenceAllele": "V",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958783.1:p.Val2787Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4925303",
          "hgvs": "NM_201381.3:c.8359G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185511"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2114407[alleleid]",
        "alleleId": 2114407,
        "preferredName": "NM_201384.3(PLEC):c.8455G>A (p.Val2819Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2048763",
        "RCV": [
          "RCV002909362",
          "RCV003134537"
        ],
        "variationId": 2048763
      }
    ]
  },
  "type": "amino-acid"
}