Canonical Allele Identifier: PA2827187268
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 11505
ClinVar RCV Id: RCV000012260 RCV001203327 RCV002281041
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Cys291Tyr
CA121527
NM_001323289.2:c.872G>A