ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827187117
Gene: CDKL5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000479527
ClinVar Variation:
421114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Asp135His
CA16621269
NM_001323289.2:c.403G>C