{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828141967",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 27,
          "referenceAllele": "G",
          "start": 26
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006996",
      "geneNCBI_id": 4208,
      "geneSymbol": "MEF2C",
      "hgvs": [
        "NP_001351265.1:p.Gly27Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130789",
          "hgvs": "NM_001364336.2:c.80G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS634272"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=48701[alleleid]",
        "alleleId": 48701,
        "preferredName": "NM_002397.5(MEF2C):c.80G>C (p.Gly27Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40216",
        "RCV": [
          "RCV000033231"
        ],
        "variationId": 40216
      }
    ]
  },
  "type": "amino-acid"
}