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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.[Ala636_Leu645delinsGlnLeuGluProThrAlaCysAsn;Pro647_Gln648delinsCysHis;Gly650_Gln652delinsSer;Pro654_Pro655del;Met657_Arg661delinsAsnSer;Ser663_Lys665delinsLeuGlnArg]
CA2695231334
NM_003159.2:c.1906del