{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830494422",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 4504,
          "referenceAllele": "S",
          "start": 4503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958783.1:p.Ser4504Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4923747",
          "hgvs": "NM_201381.3:c.13511C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185511"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492230[alleleid]",
        "alleleId": 492230,
        "preferredName": "NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/500806",
        "RCV": [
          "RCV000595493",
          "RCV000817784",
          "RCV004024797"
        ],
        "variationId": 500806
      }
    ]
  },
  "type": "amino-acid"
}