ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825380325
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1578921
ClinVar RCV Id:
RCV002090856
RCV002290848
RCV003438938
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Arg539Thr
CA412361970
NM_001037343.2:c.1616G>C