Canonical Allele Identifier: PA2827187031
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 11502
ClinVar RCV Id: RCV000012257 RCV000133317 RCV000699210 RCV001507073 RCV001564884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ala40Val
CA121521
NM_001323289.2:c.119C>T