ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580214847
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1700932
ClinVar RCV Id:
RCV002275844
RCV004529115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Tyr941Cys
CA412369143
NM_001323289.2:c.2822A>G