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Canonical Allele Identifier: Get Identifier
Gene: MECP2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.[His279_Ser280delinsGln;Ser282_Lys284delinsAsp;Pro286_Pro288delinsGlnArgArg;Leu290_Pro306del;Ser308_Pro310delinsGly;Pro312_Pro326delinsArg;Gly328_Ser330del;Glu332_Cys336del;Lys338_Thr343del;Pro345Gly;Val347Ser;Thr349del;Ala351_Ala354del]