{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA270079",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 185,
          "referenceAllele": "A",
          "start": 184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006816",
      "geneNCBI_id": 4117,
      "geneSymbol": "MAK",
      "hgvs": [
        "NP_001229314.1:p.Ala185Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA270078",
          "hgvs": "NM_001242385.2:c.553G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS158560"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152841[alleleid]",
        "alleleId": 152841,
        "preferredName": "NM_001242957.3(MAK):c.553G>A (p.Ala185Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143123",
        "RCV": [
          "RCV000132645",
          "RCV001315049",
          "RCV003888560"
        ],
        "variationId": 143123
      }
    ]
  },
  "type": "amino-acid"
}