ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA121516
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11496
ClinVar RCV Id:
RCV000012251
RCV000133370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Cys152Phe
CA121515
NM_003159.2:c.455G>T