Canonical Allele Identifier: PA2827187449
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 377647
ClinVar RCV Id: RCV000430375 RCV000934056 RCV003372703
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Met577Thr
CA10360411
NM_001323289.2:c.1730T>C