Allele Registry

Canonical Allele Identifier: PA171643

Gene: CDKL5 HGNC NCBI

ClinVar RCV:

RCV000145540

RCV002055867

RCV004532636

ClinVar Variation:

156695

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Met1003Thr	CA171642 NM_003159.2:c.3008T>C