{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825043806",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 50,
          "referenceAllele": "S",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003349",
      "geneNCBI_id": 2022,
      "geneSymbol": "ENG",
      "hgvs": [
        "NP_000109.1:p.Ser50Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA200320717",
          "hgvs": "NM_000118.3:c.149C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146668"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=993150[alleleid]",
        "alleleId": 993150,
        "preferredName": "NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1011645",
        "RCV": [
          "RCV001309474",
          "RCV003485705"
        ],
        "variationId": 1011645
      }
    ]
  },
  "type": "amino-acid"
}