Canonical Allele Identifier: PA2827187158
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2950640
ClinVar RCV Id: RCV003809950
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Val172Gly
CA412352420
NM_001323289.2:c.515T>G