{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499230252",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 85,
          "referenceAllele": "D",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007577",
      "geneNCBI_id": 4625,
      "geneSymbol": "MYH7",
      "hgvs": [
        "NP_000248.2:p.Asp85His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA033179",
          "hgvs": "NM_000257.4:c.253G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146804"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1011055[alleleid]",
        "alleleId": 1011055,
        "preferredName": "NM_000257.4(MYH7):c.253G>C (p.Asp85His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1013939",
        "RCV": [
          "RCV001312602"
        ],
        "variationId": 1013939
      }
    ]
  },
  "type": "amino-acid"
}