{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645432438",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 449,
          "referenceAllele": "E",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NP_002462.2:p.Glu449Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7115834",
          "hgvs": "NM_002471.4:c.1347G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA389023600",
          "hgvs": "NM_002471.4:c.1347G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168320"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=230478[alleleid]",
        "alleleId": 230478,
        "preferredName": "NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228887",
        "RCV": [
          "RCV000221158",
          "RCV001565787",
          "RCV001853462",
          "RCV002381744"
        ],
        "variationId": 228887
      }
    ]
  },
  "type": "amino-acid"
}