Canonical Allele Identifier: PA2827187105
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143818
ClinVar RCV Id: RCV000133366 RCV000169914 RCV001071921 RCV004528868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.His127Arg
CA199281
NM_001323289.2:c.380A>G