{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109060",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 18,
          "referenceAllele": "S",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "NP_003131.1:p.Ser18Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254886",
          "hgvs": "NM_003140.3:c.53G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168956"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24793[alleleid]",
        "alleleId": 24793,
        "preferredName": "NM_003140.3(SRY):c.53G>A (p.Ser18Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9754",
        "RCV": [
          "RCV000010408"
        ],
        "variationId": 9754
      }
    ]
  },
  "type": "amino-acid"
}