{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825324299",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 1245,
          "referenceAllele": "M",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001908",
      "geneNCBI_id": 23230,
      "geneSymbol": "VPS13A",
      "hgvs": [
        "NP_001018048.1:p.Met1245Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5092321",
          "hgvs": "NM_001018038.3:c.3733A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149138"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=577134[alleleid]",
        "alleleId": 577134,
        "preferredName": "NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/586930",
        "RCV": [
          "RCV000714174",
          "RCV001825430"
        ],
        "variationId": 586930
      }
    ]
  },
  "type": "amino-acid"
}