Canonical Allele Identifier: PA2827187167
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 189595
ClinVar RCV Id: RCV000170050 RCV001850413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Trp176Cys
CA199411
NM_001323289.2:c.528G>T
CA412352470
NM_001323289.2:c.528G>C