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"hgvs": [ "NM_001351044.2:c.166del" ], "proteinEffect": { "hgvs": "NP_001337973.1:p.Arg56AlafsTer?", "hgvsWellDefined": "NP_001337973.1:p.[Arg56_Ser62delinsAlaGluSerGluProHisArg;Met64_Ser72delinsTrpAspAlaSerSerSerSerThrPro;Ile74_His85delinsSerLysProThrValMetLysValThrSerSerIle]" }, "referenceSequence": "http://reg.genome.network/refseq/RS719685" }, { "coordinates": [ { "allele": "", "end": 388, "referenceAllele": "C", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN026257", "geneNCBI_id": 79955, "geneSymbol": "PDZD7", "hgvs": [ "NM_024895.5:c.166del" ], "proteinEffect": { "hgvs": "NP_079171.1:p.Arg56AlafsTer?", "hgvsWellDefined": "NP_079171.1:p.[Arg56_Ser62delinsAlaGluSerGluProHisArg;Met64_Ser72delinsTrpAspAlaSerSerSerSerThrPro;Ile74_His85delinsSerLysProThrValMetLysValThrSerSerIle]" }, "referenceSequence": "http://reg.genome.network/refseq/RS728688" } ], "type": "nucleotide" }