{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA097747",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 251,
          "referenceAllele": "E",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022962",
      "geneNCBI_id": 23389,
      "geneSymbol": "MED13L",
      "hgvs": [
        "NP_056150.1:p.Glu251Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115346",
          "hgvs": "NM_015335.5:c.752A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174471"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17145[alleleid]",
        "alleleId": 17145,
        "preferredName": "NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2106",
        "RCV": [
          "RCV000002187",
          "RCV001777129",
          "RCV002272007"
        ],
        "variationId": 2106
      }
    ]
  },
  "type": "amino-acid"
}