{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580208217",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 78,
          "referenceAllele": "V",
          "start": 77
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NP_001308052.1:p.Val78Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294058272",
          "hgvs": "NM_001321123.2:c.232G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648404"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1896208[alleleid]",
        "alleleId": 1896208,
        "preferredName": "NM_000213.5(ITGB4):c.232G>A (p.Val78Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2168660",
        "RCV": [
          "RCV003100413"
        ],
        "variationId": 2168660
      }
    ]
  },
  "type": "amino-acid"
}