Canonical Allele Identifier: PA2580287759
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2419190
ClinVar RCV Id: RCV003112434
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Thr567Met
CA412362323
NM_003159.2:c.1700C>T