ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827187182
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1700386
ClinVar RCV Id:
RCV002274635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Leu182Pro
CA412352546
NM_001323289.2:c.545T>C