Canonical Allele Identifier: PA2827187492
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 393097
ClinVar RCV Id: RCV000437063 RCV001055079 RCV003168709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Leu644Phe
CA16608795
NM_001323289.2:c.1930C>T