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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.[Ser365_Asn370delinsMetGluThrLeuLeuGlu;Ala372_Ser377delinsValLeuValHisCysThr;Leu379_His380delinsLysPro;Thr383_Tyr384del;Ser387Ala;Gln389_Pro390delinsLeu;Ser392_Ser394delinsLeuProAla;Asp396_Leu397delinsIleSer]
CA2695231301
NM_001037343.2:c.1094_1103del