{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573248780",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 722,
          "referenceAllele": "M",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NP_005227.1:p.Met722Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7910689",
          "hgvs": "NM_005236.3:c.2164A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170884"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1675559[alleleid]",
        "alleleId": 1675559,
        "preferredName": "NM_005236.3(ERCC4):c.2164A>G (p.Met722Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1683628",
        "RCV": [
          "RCV002244149"
        ],
        "variationId": 1683628
      }
    ]
  },
  "type": "amino-acid"
}