Canonical Allele Identifier: PA2827187061
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 11503
ClinVar RCV Id: RCV000012258 RCV000080068 RCV000169913 RCV001385703 RCV001507029
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ile72Thr
CA121523
NM_001323289.2:c.215T>C