{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA083279",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 208,
          "referenceAllele": "L",
          "start": 207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005028",
      "geneNCBI_id": 3176,
      "geneSymbol": "HNMT",
      "hgvs": [
        "NP_008826.1:p.Leu208Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA347928",
          "hgvs": "NM_006895.3:c.623T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172403"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=216928[alleleid]",
        "alleleId": 216928,
        "preferredName": "NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219126",
        "RCV": [
          "RCV000203542"
        ],
        "variationId": 219126
      }
    ]
  },
  "type": "amino-acid"
}