Canonical Allele Identifier: PA2827187474
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306443
ClinVar RCV Id: RCV001760453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg617Leu
CA412363228
NM_001323289.2:c.1850G>T