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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000485244.1:p.[Asn368_Asn370delinsMetGluThr;Ala372_Ser375delinsLeuGluLeuVal;Ser377_Thr381delinsValHisCysThrPro;Lys382_Thr383insPro;Tyr384Lys;Ser387Ala;Gln389_Pro390delinsLeu;Ser392_Ser394delinsLeuProAla;Asp396_Leu397delinsIleSer]
CA2819902038
ENST00000623535.2:c.1103del