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"http://reg.genome.network/refseq/RS610312" }, { "coordinates": [ { "allele": "T", "end": 1313, "referenceAllele": "C", "start": 1312 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "XR_932838.3:n.1313C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS610313" }, { "coordinates": [ { "allele": "T", "end": 1192, "referenceAllele": "C", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN000057", "geneNCBI_id": 368, "geneSymbol": "ABCC6", "hgvs": [ "NM_001171.6:c.1132C>T" ], "proteinEffect": { "hgvs": "NP_001162.5:p.Gln378Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS713353", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000205557.12:c.1132C>T" }, "RefSeq": { "hgvs": "NM_001171.6:c.1132C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000205557.7:p.Gln378Ter" }, "RefSeq": { "hgvs": "NP_001162.5:p.Gln378Ter" } } } } ], "type": "nucleotide" }