{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915979022",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1046,
          "referenceAllele": "V",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007602",
      "geneNCBI_id": 4644,
      "geneSymbol": "MYO5A",
      "hgvs": [
        "NP_001135967.2:p.Val1046Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7568513",
          "hgvs": "NM_001142495.2:c.3136G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709066"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=429704[alleleid]",
        "alleleId": 429704,
        "preferredName": "NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/435922",
        "RCV": [
          "RCV000658717",
          "RCV000502933",
          "RCV001252332",
          "RCV002527267",
          "RCV001731727"
        ],
        "variationId": 435922
      }
    ]
  },
  "type": "amino-acid"
}