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}, "referenceSequence": "http://reg.genome.network/refseq/RS569900" }, { "coordinates": [ { "allele": "T", "end": 4274, "referenceAllele": "A", "start": 4273 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "XR_002957150.1:n.4274A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603286" }, { "coordinates": [ { "allele": "T", "end": 3779, "referenceAllele": "A", "start": 3778 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_001351834.2:c.3541A>T" ], "proteinEffect": { "hgvs": "NP_001338763.1:p.Lys1181Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS688979" }, { "coordinates": [ { "allele": "T", "end": 3691, "referenceAllele": "A", "start": 3690 } ], "gene": "http://reg.genome.network/gene/GN000795", "geneNCBI_id": 472, "geneSymbol": "ATM", "hgvs": [ "NM_000051.4:c.3541A>T" ], "proteinEffect": { "hgvs": "NP_000042.3:p.Lys1181Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS710791", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000675843.1:c.3541A>T" }, "RefSeq": { "hgvs": "NM_000051.4:c.3541A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000501606.1:p.Lys1181Ter" }, "RefSeq": { "hgvs": "NP_000042.3:p.Lys1181Ter" } } } } ], "type": "nucleotide" }