{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830351947",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 323,
          "referenceAllele": "A",
          "start": 322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006953",
      "geneNCBI_id": 4179,
      "geneSymbol": "CD46",
      "hgvs": [
        "NP_758863.1:p.Ala323Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1371869",
          "hgvs": "NM_172353.3:c.968C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183248"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=278736[alleleid]",
        "alleleId": 278736,
        "preferredName": "NM_172351.3(CD46):c.1013C>T (p.Ala338Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/294975",
        "RCV": [
          "RCV000986508",
          "RCV001258277",
          "RCV001521712",
          "RCV001702414",
          "RCV002294251"
        ],
        "variationId": 294975
      }
    ]
  },
  "type": "amino-acid"
}