Canonical Allele Identifier: PA2825380552
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156693
ClinVar RCV Id: RCV000764871 RCV001202850 RCV001704065 RCV003235064 RCV004544331
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Gln913His
CA294768
NM_001037343.2:c.2739G>C
CA412372427
NM_001037343.2:c.2739G>T