{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828046481",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147,
          "referenceAllele": "S",
          "start": 146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NP_001342145.1:p.Ser147Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA032120",
          "hgvs": "NM_001355216.1:c.439A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=226087[alleleid]",
        "alleleId": 226087,
        "preferredName": "NM_020975.6(RET):c.1201A>T (p.Ser401Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/224354",
        "RCV": [
          "RCV000416603",
          "RCV000560396",
          "RCV001010283",
          "RCV003468970"
        ],
        "variationId": 224354
      }
    ]
  },
  "type": "amino-acid"
}