Canonical Allele Identifier: PA2827187536
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1540861
ClinVar RCV Id: RCV002172220
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Pro723Ser
CA412367879
NM_001323289.2:c.2167C>T