{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA162834",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 191,
          "referenceAllele": "L",
          "start": 190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012814",
      "geneNCBI_id": 7507,
      "geneSymbol": "XPA",
      "hgvs": [
        "NP_000371.1:p.Leu191Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162832",
          "hgvs": "NM_000380.4:c.571C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146924"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139197[alleleid]",
        "alleleId": 139197,
        "preferredName": "NM_000380.4(XPA):c.571C>G (p.Leu191Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135458",
        "RCV": [
          "RCV000122316",
          "RCV000665704",
          "RCV000930543"
        ],
        "variationId": 135458
      }
    ]
  },
  "type": "amino-acid"
}