{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829395040",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 312,
          "referenceAllele": "N",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007569",
      "geneNCBI_id": 4629,
      "geneSymbol": "MYH11",
      "hgvs": [
        "NP_002465.1:p.Asn312Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7922772",
          "hgvs": "NM_002474.3:c.935A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168323"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=570013[alleleid]",
        "alleleId": 570013,
        "preferredName": "NM_002474.3(MYH11):c.935A>G (p.Asn312Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/566653",
        "RCV": [
          "RCV000686522",
          "RCV000771504",
          "RCV001568762",
          "RCV002477527"
        ],
        "variationId": 566653
      }
    ]
  },
  "type": "amino-acid"
}