ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741901689
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2953048
ClinVar RCV Id:
RCV003810166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Thr538Lys
CA412361960
NM_003159.2:c.1613C>A