ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825380599
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210646
ClinVar RCV Id:
RCV000194778
RCV000990489
RCV001507064
RCV001519910
RCV001545727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Val966Ile
CA209185
NM_001037343.2:c.2896G>A