{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA273503",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 80,
          "referenceAllele": "T",
          "start": 79
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "NP_000423.2:p.Thr80Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009949",
          "hgvs": "NM_000432.4:c.239C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146975"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=165570[alleleid]",
        "alleleId": 165570,
        "preferredName": "NM_000432.4(MYL2):c.239C>A (p.Thr80Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/155818",
        "RCV": [
          "RCV000143928",
          "RCV000542482",
          "RCV000844710"
        ],
        "variationId": 155818
      }
    ]
  },
  "type": "amino-acid"
}