ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827187128
Gene: CDKL5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000417862
ClinVar Variation:
392860
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Asn140Ser
CA16608355
NM_001323289.2:c.419A>G