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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000485184.1:p.[Ser438_Ser440del;Asn443_His445delinsIle;Phe447_Met448delinsAla;Ser450_Ala455delinsProProLeuIleHis;Thr457Lys;Gln459_His467delinsSerLysGlnSerTrpAspThrAlaAlaGln]
CA170444
ENST00000463994.4:c.1311dup