ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827186999
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568435
ClinVar RCV Id:
RCV000688793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Val9Ala
CA412489533
NM_001323289.2:c.26T>C