{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645469112",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 261,
          "referenceAllele": "V",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016252",
      "geneNCBI_id": 140732,
      "geneSymbol": "SUN5",
      "hgvs": [
        "NP_542406.2:p.Val261Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10602642",
          "hgvs": "NM_080675.4:c.781G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180755"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=263461[alleleid]",
        "alleleId": 263461,
        "preferredName": "NM_080675.4(SUN5):c.781G>A (p.Val261Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/268051",
        "RCV": [
          "RCV000258689"
        ],
        "variationId": 268051
      }
    ]
  },
  "type": "amino-acid"
}