{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA323178",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14,
          "referenceAllele": "A",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011474",
      "geneNCBI_id": 6834,
      "geneSymbol": "SURF1",
      "hgvs": [
        "NP_003163.1:p.Ala14Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA323176",
          "hgvs": "NM_003172.4:c.40G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168984"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=211369[alleleid]",
        "alleleId": 211369,
        "preferredName": "NM_003172.4(SURF1):c.40G>A (p.Ala14Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215229",
        "RCV": [
          "RCV000198640",
          "RCV001853202",
          "RCV004020427"
        ],
        "variationId": 215229
      }
    ]
  },
  "type": "amino-acid"
}