Canonical Allele Identifier: PA3057538899
Gene: CDKL5 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Arg890Trp
CA412367828
NM_003159.2:c.2668C>T