{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645480199",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 544,
          "referenceAllele": "A",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018620",
      "geneNCBI_id": 25839,
      "geneSymbol": "COG4",
      "hgvs": [
        "NP_056201.2:p.Ala544Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10638260",
          "hgvs": "NM_015386.3:c.1631C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174517"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=326205[alleleid]",
        "alleleId": 326205,
        "preferredName": "NM_015386.3(COG4):c.1631C>T (p.Ala544Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/320370",
        "RCV": [
          "RCV003343779",
          "RCV001364935"
        ],
        "variationId": 320370
      }
    ]
  },
  "type": "amino-acid"
}