{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580517175",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 313,
          "referenceAllele": "A",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017014",
      "geneNCBI_id": 11135,
      "geneSymbol": "CDC42EP1",
      "hgvs": [
        "NP_689449.1:p.Ala313Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA411479105",
          "hgvs": "NM_152243.3:c.937G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182235"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2277168[alleleid]",
        "alleleId": 2277168,
        "preferredName": "NM_152243.3(CDC42EP1):c.937G>T (p.Ala313Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2294713",
        "RCV": [
          "RCV004142810"
        ],
        "variationId": 2294713
      }
    ]
  },
  "type": "amino-acid"
}