{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3249370403",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 7,
          "referenceAllele": "V",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016898",
      "geneNCBI_id": 10278,
      "geneSymbol": "EFS",
      "hgvs": [
        "NP_115835.1:p.Val7Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7113643",
          "hgvs": "NM_032459.3:c.19G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179623"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4511172[alleleid]",
        "alleleId": 4511172,
        "preferredName": "NM_005864.4(EFS):c.298G>A (p.Val100Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4395676",
        "RCV": [
          "RCV006077444",
          "RCV006077445",
          "RCV006077446",
          "RCV006077447",
          "RCV006077442",
          "RCV006077443"
        ],
        "variationId": 4395676
      }
    ]
  },
  "type": "amino-acid"
}