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"nucleotide": { "Ensembl": { "hgvs": "ENST00000258781.11:c.499C>T" }, "RefSeq": { "hgvs": "NM_031443.4:c.499C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000258781.7:p.Gln167Ter" }, "RefSeq": { "hgvs": "NP_113631.1:p.Gln167Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NR_030770.2:n.581C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702076" }, { "@id": "http://reg.genome.network/allele/PA2826050873", "coordinates": [ { "allele": "T", "end": 458, "referenceAllele": "C", "start": 457 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167934.2:c.325C>T" ], "proteinEffect": { "hgvs": "NP_001161406.1:p.Gln109Ter", "hgvsWellDefined": 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"endIntronDirection": "+", "endIntronOffset": 3823, "referenceAllele": "C", "start": 605, "startIntronDirection": "+", "startIntronOffset": 3822 } ], "gene": "http://reg.genome.network/gene/GN021708", "geneNCBI_id": 83605, "geneSymbol": "CCM2", "hgvs": [ "NM_001167935.2:c.472+3823C>T" ], "proteinEffect": { "hgvs": "NP_001161407.1:n.472+3823C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS713261" } ], "type": "nucleotide" }