ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA093593
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11496
ClinVar RCV Id:
RCV000012251
RCV000133370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Cys152Phe
CA121515
NM_001037343.2:c.455G>T