Canonical Allele Identifier: PA171617
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 158180
ClinVar RCV Id: RCV000145522 RCV002515954
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Thr560Ala
CA171616
NM_003159.2:c.1678A>G