ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA171607
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143772
ClinVar RCV Id:
RCV000133319
RCV000145514
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Lys42Arg
CA171606
NM_003159.2:c.125A>G