Canonical Allele Identifier: PA2827187340
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 423898
ClinVar RCV Id: RCV000481169 RCV000686829 RCV001507072
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Lys412Glu
CA10360368
NM_001323289.2:c.1234A>G