{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580400197",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 120,
          "referenceAllele": "A",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024170",
      "geneNCBI_id": 55299,
      "geneSymbol": "BRIX1",
      "hgvs": [
        "NP_060791.3:p.Ala120Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA359403521",
          "hgvs": "NM_018321.4:c.359C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176173"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2237119[alleleid]",
        "alleleId": 2237119,
        "preferredName": "NM_018321.4(BRIX1):c.359C>T (p.Ala120Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2257645",
        "RCV": [
          "RCV004114872"
        ],
        "variationId": 2257645
      }
    ]
  },
  "type": "amino-acid"
}