{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA154435",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 45,
          "referenceAllele": "G",
          "start": 44
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_000436.2:p.Gly45Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA154434",
          "hgvs": "NM_000445.4:c.133G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146988"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=135378[alleleid]",
        "alleleId": 135378,
        "preferredName": "NM_000445.5(PLEC):c.133G>A (p.Gly45Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129932",
        "RCV": [
          "RCV000117953",
          "RCV000558023",
          "RCV000725963"
        ],
        "variationId": 129932
      }
    ]
  },
  "type": "amino-acid"
}