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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.[Phe169_Thr172delinsLeuHis;Arg174_Ser178delinsAsnTrpGlu;Arg180del;Gln182_Lys183del;Pro185_Lys187delinsLeu;Lys189_Lys192delinsAlaArg;Pro194_Gly195delinsGluThr;Gly201_Arg202del]
CA2695237611
NM_001110792.2:c.504dup