{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221464",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 14,
          "referenceAllele": "T",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NP_001073270.1:p.Thr14Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221461",
          "hgvs": "NM_001079802.2:c.41C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150559"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99425[alleleid]",
        "alleleId": 99425,
        "preferredName": "NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93520",
        "RCV": [
          "RCV000079435",
          "RCV000634064",
          "RCV002504991",
          "RCV004019537"
        ],
        "variationId": 93520
      }
    ]
  },
  "type": "amino-acid"
}