{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573223323",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1384,
          "referenceAllele": "M",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NP_002283.3:p.Met1384Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA352695860",
          "hgvs": "NM_002292.4:c.4150A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA352695864",
          "hgvs": "NM_002292.4:c.4150A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168161"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1340769[alleleid]",
        "alleleId": 1340769,
        "preferredName": "NM_002292.4(LAMB2):c.4150A>T (p.Met1384Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1436377",
        "RCV": [
          "RCV001974745"
        ],
        "variationId": 1436377
      }
    ]
  },
  "type": "amino-acid"
}