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Canonical Allele Identifier: Get Identifier
Gene: MECP2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.[Lys187_Gly197del;Gly199_Gly207delinsLeu;Thr209_Arg210del;Lys212_Ser216delinsGln;Val219_Ser228delinsAla;Gly230_Met236del;Phe238_Ser241del;Gly243_Thr253del;Thr255_Arg262del;Gly264_Asp272del;Gln274_Val312del;Pro314_Lys317del;Lys319_Thr323del;Ser325_Lys333del;Leu335_Glu342del;Ser344del;Lys346_Ser353del;Gly355del;Lys357_Ser369delinsAlaThr;Ser371_Ser372del;Pro374_Ser387delinsThr;Lys389del;Val392_Pro400del]