Canonical Allele Identifier: PA093584
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143770
ClinVar RCV Id: RCV000133316 RCV000479280 RCV000764869 RCV001507054 RCV003993824
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Asn399Thr
CA170438
NM_001037343.2:c.1196A>C