{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825324906",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2425,
          "referenceAllele": "V",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NP_001018048.1:p.Val2425Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5093275",
          "hgvs": "NM_001018038.3:c.7273G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=978613[alleleid]",
        "alleleId": 978613,
        "preferredName": "NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/989592",
        "RCV": [
          "RCV001277456",
          "RCV003236887"
        ],
        "variationId": 989592
      }
    ]
  },
  "type": "amino-acid"
}