Canonical Allele Identifier: PA2827187146
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 217360
ClinVar RCV Id: RCV000201271 RCV000487793 RCV001857739 RCV003235124 RCV002470811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ala157Val
CA279171
NM_001323289.2:c.470C>T