ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825380302
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385072
ClinVar RCV Id:
RCV000429491
RCV002058976
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Ala509Val
CA10360389
NM_001037343.2:c.1526C>T