Canonical Allele Identifier: PA2827187302
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1716383
ClinVar RCV Id: RCV002303451
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ser350Asn
CA412359127
NM_001323289.2:c.1049G>A