Canonical Allele Identifier: PA2825380356
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3235098
ClinVar RCV Id: RCV004547431
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Ser591Cys
CA412362656
NM_001037343.2:c.1772C>G