Canonical Allele Identifier: PA2827187430
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2123052
ClinVar RCV Id: RCV003047172
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Gly553Arg
CA412362150
NM_001323289.2:c.1657G>A
CA412362152
NM_001323289.2:c.1657G>C