{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829730487",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 311,
          "referenceAllele": "L",
          "start": 310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008967",
      "geneNCBI_id": 23556,
      "geneSymbol": "PIGN",
      "hgvs": [
        "NP_036459.1:p.Leu311Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8982449",
          "hgvs": "NM_012327.6:c.932T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173042"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415608[alleleid]",
        "alleleId": 415608,
        "preferredName": "NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426983",
        "RCV": [
          "RCV000489201",
          "RCV000532832",
          "RCV000624007"
        ],
        "variationId": 426983
      }
    ]
  },
  "type": "amino-acid"
}