{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA102814",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 70,
          "referenceAllele": "S",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006408",
      "geneNCBI_id": 9935,
      "geneSymbol": "MAFB",
      "hgvs": [
        "NP_005452.2:p.Ser70Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129454",
          "hgvs": "NM_005461.5:c.209C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171092"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39727[alleleid]",
        "alleleId": 39727,
        "preferredName": "NM_005461.5(MAFB):c.209C>T (p.Ser70Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30770",
        "RCV": [
          "RCV000023749",
          "RCV001266648"
        ],
        "variationId": 30770
      }
    ]
  },
  "type": "amino-acid"
}