{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA149908",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 272,
          "referenceAllele": "S",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NP_000422.1:p.Ser272Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA149906",
          "hgvs": "NM_000431.4:c.815C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146974"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=103521[alleleid]",
        "alleleId": 103521,
        "preferredName": "NM_000431.4(MVK):c.815C>T (p.Ser272Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/97629",
        "RCV": [
          "RCV000083881",
          "RCV002262664"
        ],
        "variationId": 97629
      }
    ]
  },
  "type": "amino-acid"
}