ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827187008
Gene: CDKL5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001175282
RCV001507056
RCV001819879
ClinVar Variation:
918032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Gly20Val
CA412489610
NM_001323289.2:c.59G>T