{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA134498",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 275,
          "referenceAllele": "I",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NP_002462.2:p.Ile275Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA134496",
          "hgvs": "NM_002471.4:c.824T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168320"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53712[alleleid]",
        "alleleId": 53712,
        "preferredName": "NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44545",
        "RCV": [
          "RCV000037541",
          "RCV000171837",
          "RCV000624229",
          "RCV000989184",
          "RCV001572348",
          "RCV002426562",
          "RCV004534793"
        ],
        "variationId": 44545
      }
    ]
  },
  "type": "amino-acid"
}