{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645462167",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 253,
          "referenceAllele": "H",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN027337",
      "geneNCBI_id": 203859,
      "geneSymbol": "ANO5",
      "hgvs": [
        "NP_998764.1:p.His253Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10607100",
          "hgvs": "NM_213599.3:c.758A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS186105"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=275548[alleleid]",
        "alleleId": 275548,
        "preferredName": "NM_213599.3(ANO5):c.758A>C (p.His253Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/291313",
        "RCV": [
          "RCV000393148"
        ],
        "variationId": 291313
      }
    ]
  },
  "type": "amino-acid"
}