{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139760705",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 518,
          "referenceAllele": "S",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NP_078951.2:p.Ser518Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA395130803",
          "hgvs": "NM_024675.4:c.1553C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178449"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=843604[alleleid]",
        "alleleId": 843604,
        "preferredName": "NM_024675.4(PALB2):c.1553C>T (p.Ser518Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/835904",
        "RCV": [
          "RCV001036902"
        ],
        "variationId": 835904
      }
    ]
  },
  "type": "amino-acid"
}