{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829812499",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 2062,
          "referenceAllele": "L",
          "start": 2061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NP_056001.1:p.Leu2062Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA373848286",
          "hgvs": "NM_015186.4:c.6184C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174349"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=902406[alleleid]",
        "alleleId": 902406,
        "preferredName": "NM_033305.3(VPS13A):c.6184C>T (p.Leu2062Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/913586",
        "RCV": [
          "RCV001167284"
        ],
        "variationId": 913586
      }
    ]
  },
  "type": "amino-acid"
}