{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499304246",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 273,
          "referenceAllele": "A",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014530",
      "geneNCBI_id": 80320,
      "geneSymbol": "SP6",
      "hgvs": [
        "NP_954871.1:p.Ala273Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2499224679",
          "hgvs": "NM_199262.3:c.817_818delinsAT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185407"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=985547[alleleid]",
        "alleleId": 985547,
        "preferredName": "NM_001258248.2(SP6):c.817_818delinsAT (p.Ala273Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/997829",
        "RCV": [
          "RCV001579315",
          "RCV003329399"
        ],
        "variationId": 997829
      }
    ]
  },
  "type": "amino-acid"
}