Canonical Allele Identifier: PA2741860801
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2636030
ClinVar RCV Id: RCV004534354
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Met949Ile
CA412369196
NM_001323289.2:c.2847G>A
CA412369197
NM_001323289.2:c.2847G>T
CA412369198
NM_001323289.2:c.2847G>C