Canonical Allele Identifier: PA2827187416
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1664994
ClinVar RCV Id: RCV002191390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Pro527Leu
CA10360395
NM_001323289.2:c.1580C>T