ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139700787
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
844687
ClinVar RCV Id:
RCV001047599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Gly20Ser
CA412489608
NM_003159.2:c.58G>A