{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA312748",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 25,
          "referenceAllele": "V",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025221",
      "geneNCBI_id": 27249,
      "geneSymbol": "MMADHC",
      "hgvs": [
        "NP_056517.1:p.Val25Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA312747",
          "hgvs": "NM_015702.3:c.73G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174742"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=199985[alleleid]",
        "alleleId": 199985,
        "preferredName": "NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203838",
        "RCV": [
          "RCV001035983",
          "RCV001128927"
        ],
        "variationId": 203838
      }
    ]
  },
  "type": "amino-acid"
}