{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580419639",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 600,
          "referenceAllele": "A",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025521",
      "geneNCBI_id": 55133,
      "geneSymbol": "SRBD1",
      "hgvs": [
        "NP_060549.4:p.Ala600Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1643035",
          "hgvs": "NM_018079.5:c.1799C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175958"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2235395[alleleid]",
        "alleleId": 2235395,
        "preferredName": "NM_018079.5(SRBD1):c.1799C>T (p.Ala600Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2250728",
        "RCV": [
          "RCV004109454"
        ],
        "variationId": 2250728
      }
    ]
  },
  "type": "amino-acid"
}