{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA351293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 147,
          "referenceAllele": "L",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NP_000410.2:p.Leu147Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351291",
          "hgvs": "NM_000419.3:c.439C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146962"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=213645[alleleid]",
        "alleleId": 213645,
        "preferredName": "NM_000419.5(ITGA2B):c.439C>G (p.Leu147Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242484",
        "RCV": [
          "RCV000244527",
          "RCV000860829",
          "RCV002274952"
        ],
        "variationId": 242484
      }
    ]
  },
  "type": "amino-acid"
}