{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA101198",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 49,
          "referenceAllele": "T",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "NP_689656.2:p.Thr49Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252080",
          "hgvs": "NM_152443.2:c.146C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182404"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17088[alleleid]",
        "alleleId": 17088,
        "preferredName": "NM_152443.3(RDH12):c.146C>T (p.Thr49Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2049",
        "RCV": [
          "RCV000002130",
          "RCV001091051",
          "RCV001277201",
          "RCV002267718"
        ],
        "variationId": 2049
      }
    ]
  },
  "type": "amino-acid"
}