Canonical Allele Identifier: PA2827187422
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022264
ClinVar RCV Id: RCV001322151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Arg534Ser
CA412361905
NM_001323289.2:c.1602A>C
CA412361906
NM_001323289.2:c.1602A>T