{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA131942",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1268,
          "referenceAllele": "R",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NP_000248.2:p.Arg1268His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014102",
          "hgvs": "NM_000257.4:c.3803G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146804"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52145[alleleid]",
        "alleleId": 52145,
        "preferredName": "NM_000257.4(MYH7):c.3803G>A (p.Arg1268His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42975",
        "RCV": [
          "RCV000035868",
          "RCV000769450",
          "RCV002354188",
          "RCV001418310"
        ],
        "variationId": 42975
      }
    ]
  },
  "type": "amino-acid"
}