ClinGen Allele Registry
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Canonical Allele Identifier:
PA645375154
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000420425
RCV000503048
RCV001034449
RCV002446647
RCV003448302
RCV004530527
ClinVar Variation:
377094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Arg822His
CA10360541
NM_003159.2:c.2465G>A