Canonical Allele Identifier: PA2827187365
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2953640
ClinVar RCV Id: RCV003812863
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Phe447Leu
CA10360375
NM_001323289.2:c.1339T>C
CA412360501
NM_001323289.2:c.1341C>A
CA412360504
NM_001323289.2:c.1341C>G