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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.[Ser502_Glu510delinsThrGly;Ser512_Ser514delinsLysLeu;Tyr516_Phe517delinsSer;Ser519_Pro527delinsValProValGly;Pro530_Arg534delinsHisLeuAlaAla]
CA2695231327
NM_001323289.2:c.1504_1513delinsACT