{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825275279",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1270,
          "referenceAllele": "M",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006158",
      "geneNCBI_id": 3691,
      "geneSymbol": "ITGB4",
      "hgvs": [
        "NP_001005619.1:p.Met1270Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8769950",
          "hgvs": "NM_001005619.1:c.3810G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401078809",
          "hgvs": "NM_001005619.1:c.3810G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA401078812",
          "hgvs": "NM_001005619.1:c.3810G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS148251"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1858158[alleleid]",
        "alleleId": 1858158,
        "preferredName": "NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1800870",
        "RCV": [
          "RCV002462467"
        ],
        "variationId": 1800870
      }
    ]
  },
  "type": "amino-acid"
}