Canonical Allele Identifier: PA2827187338
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1405365
ClinVar RCV Id: RCV001903749
ClinVar Variation Id: 1974416
ClinVar RCV Id: RCV002765614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Glu410Asp
CA10360367
NM_001323289.2:c.1230A>C
CA412360031
NM_001323289.2:c.1230A>T