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}, { "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "A", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "XR_001753740.2:n.914A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS600201" }, { "@id": "http://reg.genome.network/allele/PA1139669304", "coordinates": [ { "allele": "T", "end": 1425, "referenceAllele": "A", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN011389", "geneNCBI_id": 6794, "geneSymbol": "STK11", "hgvs": [ "NM_000455.5:c.289A>T" ], "proteinEffect": { "hgvs": "NP_000446.1:p.Lys97Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674854", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000326873.12:c.289A>T" }, "RefSeq": { "hgvs": "NM_000455.5:c.289A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000324856.6:p.Lys97Ter" }, "RefSeq": { "hgvs": "NP_000446.1:p.Lys97Ter" } } } } ], "type": "nucleotide" }