{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829812308",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1743,
          "referenceAllele": "P",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NP_056001.1:p.Pro1743Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5092705",
          "hgvs": "NM_015186.4:c.5227C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174349"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=687530[alleleid]",
        "alleleId": 687530,
        "preferredName": "NM_033305.3(VPS13A):c.5227C>T (p.Pro1743Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/698313",
        "RCV": [
          "RCV000865669",
          "RCV001274088",
          "RCV003169121"
        ],
        "variationId": 698313
      }
    ]
  },
  "type": "amino-acid"
}