Canonical Allele Identifier: PA2827187147
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1387019
ClinVar RCV Id: RCV001881738 RCV003448429
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ala157Pro
CA412352120
NM_001323289.2:c.469G>C