ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825380291
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2953942
ClinVar RCV Id:
RCV003813165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Ser488Thr
CA412361031
NM_001037343.2:c.1463G>C