Canonical Allele Identifier: PA2827187161
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 11497
ClinVar RCV Id: RCV000012252 RCV000133372
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg175Ser
CA121517
NM_001323289.2:c.525A>T
CA412352458
NM_001323289.2:c.525A>C