Canonical Allele Identifier: PA2825380251
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 434662
ClinVar RCV Id: RCV000504427 RCV001507063 RCV002524164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Lys432_Tyr433delinsAsn
CA645373290
NM_001037343.2:c.1296_1298del