{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829919197",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 445,
          "referenceAllele": "L",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007108",
      "geneNCBI_id": 8195,
      "geneSymbol": "MKKS",
      "hgvs": [
        "NP_061336.1:p.Leu445Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA408231128",
          "hgvs": "NM_018848.3:c.1334T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176432"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1415645[alleleid]",
        "alleleId": 1415645,
        "preferredName": "NM_170784.3(MKKS):c.1334T>C (p.Leu445Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1394756",
        "RCV": [
          "RCV001900988"
        ],
        "variationId": 1394756
      }
    ]
  },
  "type": "amino-acid"
}