{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA316908",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 104,
          "referenceAllele": "K",
          "start": 103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_000301.1:p.Lys104Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA316906",
          "hgvs": "NM_000310.4:c.310A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146856"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201116[alleleid]",
        "alleleId": 201116,
        "preferredName": "NM_000310.4(PPT1):c.310A>G (p.Lys104Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206635",
        "RCV": [
          "RCV000188701",
          "RCV000641277",
          "RCV003362718"
        ],
        "variationId": 206635
      }
    ]
  },
  "type": "amino-acid"
}