{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830497202",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 2688,
          "referenceAllele": "V",
          "start": 2687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958784.1:p.Val2688Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4925432",
          "hgvs": "NM_201382.4:c.8062G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185512"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=457901[alleleid]",
        "alleleId": 457901,
        "preferredName": "NM_201384.3(PLEC):c.8062G>A (p.Val2688Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471656",
        "RCV": [
          "RCV000529343",
          "RCV003133346"
        ],
        "variationId": 471656
      }
    ]
  },
  "type": "amino-acid"
}