Canonical Allele Identifier: PA2827187191
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143826
ClinVar RCV Id: RCV000145543 RCV001090792 RCV001507046
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Asp193Gly
CA171648
NM_001323289.2:c.578A>G