{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828355947",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 415,
          "referenceAllele": "L",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN034408",
      "geneNCBI_id": 653319,
      "geneSymbol": "MATCAP1",
      "hgvs": [
        "NP_001356613.1:p.Leu415Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8102519",
          "hgvs": "NM_001369684.1:c.1243C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708808"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3278035[alleleid]",
        "alleleId": 3278035,
        "preferredName": "NM_001040715.2(MATCAP1):c.1243C>A (p.Leu415Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3123904",
        "RCV": [
          "RCV004416710"
        ],
        "variationId": 3123904
      }
    ]
  },
  "type": "amino-acid"
}