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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.[Leu360del;Ala362_Phe366del;Asn368_Ser377del;Leu379_Thr381delinsMet;Thr383_Gln385del;Ser388_Gln389del]
CA170436
NM_001323289.2:c.1079del