{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104108",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 122,
          "referenceAllele": "L",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016841",
      "geneNCBI_id": 9516,
      "geneSymbol": "LITAF",
      "hgvs": [
        "NP_001129944.1:p.Leu122Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA253743",
          "hgvs": "NM_001136472.2:c.364C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153149"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21099[alleleid]",
        "alleleId": 21099,
        "preferredName": "NM_001136472.2(LITAF):c.364C>G (p.Leu122Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6060",
        "RCV": [
          "RCV000006432"
        ],
        "variationId": 6060
      }
    ]
  },
  "type": "amino-acid"
}