{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828058565",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 89,
          "referenceAllele": "A",
          "start": 88
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NP_001346993.1:p.Ala89Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA243361",
          "hgvs": "NM_001360064.2:c.266C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625596"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193574[alleleid]",
        "alleleId": 193574,
        "preferredName": "NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196413",
        "RCV": [
          "RCV000177234",
          "RCV001252481",
          "RCV001083180",
          "RCV002314628",
          "RCV003907592"
        ],
        "variationId": 196413
      }
    ]
  },
  "type": "amino-acid"
}