ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827187448
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156685
ClinVar RCV Id:
RCV000866522
RCV001704064
RCV002399513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Pro574Leu
CA294755
NM_001323289.2:c.1721C>T