{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827509693",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019691",
      "geneNCBI_id": 51102,
      "geneSymbol": "MECR",
      "hgvs": [
        "NP_001336642.1:p.Gly156Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA725727",
          "hgvs": "NM_001349713.2:c.467G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS619447"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=361783[alleleid]",
        "alleleId": 361783,
        "preferredName": "NM_016011.5(MECR):c.695G>A (p.Gly232Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374878",
        "RCV": [
          "RCV000415570",
          "RCV000519749",
          "RCV000755156",
          "RCV003314592"
        ],
        "variationId": 374878
      }
    ]
  },
  "type": "amino-acid"
}