{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499271650",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 49,
          "referenceAllele": "D",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003413",
      "geneNCBI_id": 7957,
      "geneSymbol": "EPM2A",
      "hgvs": [
        "NP_005661.1:p.Asp49Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA366188225",
          "hgvs": "NM_005670.4:c.145G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171290"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1006507[alleleid]",
        "alleleId": 1006507,
        "preferredName": "NM_005670.4(EPM2A):c.145G>A (p.Asp49Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1016181",
        "RCV": [
          "RCV001315148"
        ],
        "variationId": 1016181
      }
    ]
  },
  "type": "amino-acid"
}