ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827187010
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2951612
ClinVar RCV Id:
RCV003812299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Glu21Lys
CA412489611
NM_001323289.2:c.61G>A