ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825380162
Gene: CDKL5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
411215
ClinVar RCV:
RCV000481012
RCV001244046
ClinVar Variation:
422272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Arg285Lys
CA16621272
NM_001037343.2:c.854G>A