ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658808522
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
533387
ClinVar RCV Id:
RCV000640486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Leu405Val
CA412359962
NM_003159.2:c.1213C>G