ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA199358
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156642
ClinVar RCV Id:
RCV000169974
RCV000766721
RCV001405417
RCV002260621
RCV004544327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Ala486_Lys487del
CA199357
NM_003159.2:c.1455_1460del