{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828996971",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 424,
          "referenceAllele": "H",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010726",
      "geneNCBI_id": 223117,
      "geneSymbol": "SEMA3D",
      "hgvs": [
        "NP_001371830.1:p.His424Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4323479",
          "hgvs": "NM_001384901.1:c.1272C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368025432",
          "hgvs": "NM_001384901.1:c.1272C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739639"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514269[alleleid]",
        "alleleId": 514269,
        "preferredName": "NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523626",
        "RCV": [
          "RCV000627055",
          "RCV000950415",
          "RCV003917995"
        ],
        "variationId": 523626
      }
    ]
  },
  "type": "amino-acid"
}