Canonical Allele Identifier: PA2825380314
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 590134
ClinVar RCV Id: RCV001033972 RCV002318314 RCV003448340
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Pro527Ser
CA412361753
NM_001037343.2:c.1579C>T