{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102223",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 131,
          "referenceAllele": "E",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012731",
      "geneNCBI_id": 7454,
      "geneSymbol": "WAS",
      "hgvs": [
        "NP_000368.1:p.Glu131Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162684",
          "hgvs": "NM_000377.3:c.391G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146921"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139152[alleleid]",
        "alleleId": 139152,
        "preferredName": "NM_000377.3(WAS):c.391G>A (p.Glu131Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135413",
        "RCV": [
          "RCV000122268",
          "RCV000514559",
          "RCV000990810",
          "RCV001081710",
          "RCV002280873",
          "RCV003315781",
          "RCV003975089"
        ],
        "variationId": 135413
      }
    ]
  },
  "type": "amino-acid"
}