ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499263428
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1087069
ClinVar RCV Id:
RCV001405029
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Leu406del
CA10360365
NM_003159.2:c.1216_1218del