Canonical Allele Identifier: PA2827187456
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 680382
ClinVar RCV Id: RCV000840161 RCV001229301 RCV003169069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Glu590Lys
CA10360416
NM_001323289.2:c.1768G>A