{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916017904",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 693,
          "referenceAllele": "V",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NP_001278789.1:p.Val693Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA201276",
          "hgvs": "NM_001291860.2:c.2077G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164813"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191804[alleleid]",
        "alleleId": 191804,
        "preferredName": "NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/194641",
        "RCV": [
          "RCV000175061",
          "RCV000352369",
          "RCV000388323",
          "RCV000757384",
          "RCV002277349"
        ],
        "variationId": 194641
      }
    ]
  },
  "type": "amino-acid"
}