{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645422251",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 47,
          "referenceAllele": "S",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NP_078951.2:p.Ser47Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10580052",
          "hgvs": "NM_024675.4:c.140C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178449"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=235333[alleleid]",
        "alleleId": 235333,
        "preferredName": "NM_024675.4(PALB2):c.140C>A (p.Ser47Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/231887",
        "RCV": [
          "RCV000215607",
          "RCV003765422"
        ],
        "variationId": 231887
      }
    ]
  },
  "type": "amino-acid"
}