Canonical Allele Identifier: PA2827187344
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 189601
ClinVar RCV Id: RCV000170060
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Asp422Glu
CA199421
NM_001323289.2:c.1266C>A
CA412360197
NM_001323289.2:c.1266C>G