Canonical Allele Identifier: PA2825380074
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 189595
ClinVar RCV Id: RCV000170050 RCV001850413
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Trp176Cys
CA199411
NM_001037343.2:c.528G>T
CA412352470
NM_001037343.2:c.528G>C