ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825380355
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
680382
ClinVar RCV Id:
RCV000840161
RCV001229301
RCV003169069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Glu590Lys
CA10360416
NM_001037343.2:c.1768G>A