Canonical Allele Identifier: PA2827187482
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143786
ClinVar RCV Id: RCV000133333 RCV000659290 RCV000725189 RCV002281061 RCV002408638 RCV000700107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ile631Thr
CA170457
NM_001323289.2:c.1892T>C