{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891864963",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 775,
          "referenceAllele": "N",
          "start": 774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_000526.2:p.Asn775Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA011263",
          "hgvs": "NM_000535.7:c.2324A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648137"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45350[alleleid]",
        "alleleId": 45350,
        "preferredName": "NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36689",
        "RCV": [
          "RCV000030368",
          "RCV000144644",
          "RCV000079108",
          "RCV000130364",
          "RCV000755368",
          "RCV000755648",
          "RCV000615735",
          "RCV001705609",
          "RCV001798022",
          "RCV001353478"
        ],
        "variationId": 36689
      }
    ]
  },
  "type": "amino-acid"
}