{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658803160",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 17,
          "referenceAllele": "N",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_000436.2:p.Asn17Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA372492150",
          "hgvs": "NM_000445.4:c.50A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146988"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=501975[alleleid]",
        "alleleId": 501975,
        "preferredName": "NM_000445.5(PLEC):c.50A>G (p.Asn17Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/514624",
        "RCV": [
          "RCV000604252",
          "RCV001343265"
        ],
        "variationId": 514624
      }
    ]
  },
  "type": "amino-acid"
}