{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916045723",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 418,
          "referenceAllele": "M",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010542",
      "geneNCBI_id": 6305,
      "geneSymbol": "SBF1",
      "hgvs": [
        "NP_001352748.1:p.Met418Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA143927",
          "hgvs": "NM_001365819.1:c.1252A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS647816"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=65676[alleleid]",
        "alleleId": 65676,
        "preferredName": "NM_002972.4(SBF1):c.1249A>G (p.Met417Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/51005",
        "RCV": [
          "RCV000043693",
          "RCV001252745",
          "RCV002514182"
        ],
        "variationId": 51005
      }
    ]
  },
  "type": "amino-acid"
}