{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916024326",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 44,
          "referenceAllele": "V",
          "start": 43
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026113",
      "geneNCBI_id": 79600,
      "geneSymbol": "TCTN1",
      "hgvs": [
        "NP_001306611.1:p.Val44Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6786519",
          "hgvs": "NM_001319682.3:c.130G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS640141"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=254410[alleleid]",
        "alleleId": 254410,
        "preferredName": "NM_001082538.3(TCTN1):c.298G>A (p.Val100Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257400",
        "RCV": [
          "RCV000250228",
          "RCV000545652",
          "RCV000403561",
          "RCV001555631",
          "RCV003165691"
        ],
        "variationId": 257400
      }
    ]
  },
  "type": "amino-acid"
}