Canonical Allele Identifier: PA2499263430
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003060
ClinVar RCV Id: RCV001299564
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Ser446Leu
CA412360487
NM_003159.2:c.1337C>T