{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825139453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 57,
          "referenceAllele": "T",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NP_000274.3:p.Thr57Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2793860",
          "hgvs": "NM_000283.4:c.170C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738268"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=299055[alleleid]",
        "alleleId": 299055,
        "preferredName": "NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/349289",
        "RCV": [
          "RCV000309731",
          "RCV000362223",
          "RCV001861233"
        ],
        "variationId": 349289
      }
    ]
  },
  "type": "amino-acid"
}