ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580287703
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2097961
ClinVar RCV Id:
RCV003019068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.His338Tyr
CA10360336
NM_003159.2:c.1012C>T