{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 182,
          "referenceAllele": "T",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025221",
      "geneNCBI_id": 27249,
      "geneSymbol": "MMADHC",
      "hgvs": [
        "NP_056517.1:p.Thr182Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114487",
          "hgvs": "NM_015702.3:c.545C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174742"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15801[alleleid]",
        "alleleId": 15801,
        "preferredName": "NM_015702.3(MMADHC):c.545C>A (p.Thr182Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/762",
        "RCV": [
          "RCV000000798"
        ],
        "variationId": 762
      }
    ]
  },
  "type": "amino-acid"
}