{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA231742",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 134,
          "referenceAllele": "E",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007583",
      "geneNCBI_id": 4633,
      "geneSymbol": "MYL2",
      "hgvs": [
        "NP_000423.2:p.Glu134Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010278",
          "hgvs": "NM_000432.4:c.401A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146975"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=52645[alleleid]",
        "alleleId": 52645,
        "preferredName": "NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/43475",
        "RCV": [
          "RCV000036404",
          "RCV000119379",
          "RCV000154179",
          "RCV000248445",
          "RCV000491626",
          "RCV000624611",
          "RCV000678725",
          "RCV000776290"
        ],
        "variationId": 43475
      }
    ]
  },
  "type": "amino-acid"
}