Canonical Allele Identifier: PA2827187643
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1701032
ClinVar RCV Id: RCV002275896 RCV002300674 RCV002466282 RCV003774883
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Pro895Leu
CA294762
NM_001323289.2:c.2684C>T