Canonical Allele Identifier: PA2580287726
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1810569
ClinVar RCV Id: RCV002510056 RCV002569425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Gly430Arg
CA412360284
NM_003159.2:c.1288G>A
CA412360285
NM_003159.2:c.1288G>C