ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA170497
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143828
ClinVar RCV Id:
RCV000133379
RCV002515935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Gly20Arg
CA170496
NM_003159.2:c.58G>C