ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825380560
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143810
ClinVar RCV Id:
RCV000133358
RCV001089711
RCV002055856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Arg923Cys
CA170481
NM_001037343.2:c.2767C>T