Canonical Allele Identifier: PA2825380351
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1254860
ClinVar RCV Id: RCV001659042 RCV003771822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Ser582Phe
CA412362544
NM_001037343.2:c.1745C>T