{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580325307",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 485,
          "referenceAllele": "V",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011358",
      "geneNCBI_id": 10254,
      "geneSymbol": "STAM2",
      "hgvs": [
        "NP_005834.4:p.Val485Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA348814690",
          "hgvs": "NM_005843.6:c.1453G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171439"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2243040[alleleid]",
        "alleleId": 2243040,
        "preferredName": "NM_005843.6(STAM2):c.1453G>A (p.Val485Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2253193",
        "RCV": [
          "RCV004109959"
        ],
        "variationId": 2253193
      }
    ]
  },
  "type": "amino-acid"
}