{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645418291",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 575,
          "referenceAllele": "Y",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007765",
      "geneNCBI_id": 4763,
      "geneSymbol": "NF1",
      "hgvs": [
        "NP_001121619.1:p.Tyr575Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043521",
          "hgvs": "NM_001128147.3:c.1724A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152194"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361009[alleleid]",
        "alleleId": 361009,
        "preferredName": "NM_001042492.3(NF1):c.1721+3A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374108",
        "RCV": [
          "RCV000414938",
          "RCV000457496",
          "RCV000492226",
          "RCV000626641",
          "RCV000992429",
          "RCV003470366"
        ],
        "variationId": 374108
      }
    ]
  },
  "type": "amino-acid"
}