Canonical Allele Identifier: PA2825380547
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2923556
ClinVar RCV Id: RCV003783114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Gln902His
CA412368242
NM_001037343.2:c.2706G>C
CA412368244
NM_001037343.2:c.2706G>T