Canonical Allele Identifier: PA2827187413
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 434664
ClinVar RCV Id: RCV000502210 RCV000793868 RCV000831115 RCV003159618
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Leu522Val
CA10360394
NM_001323289.2:c.1564T>G