Canonical Allele Identifier: PA2827187415
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 590134
ClinVar RCV Id: RCV001033972 RCV002318314 RCV003448340
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Pro527Ser
CA412361753
NM_001323289.2:c.1579C>T