Canonical Allele Identifier: PA2825380380
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1707940
ClinVar RCV Id: RCV002287101 RCV003774950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Ser630Arg
CA412363648
NM_001037343.2:c.1888A>C
CA412363681
NM_001037343.2:c.1890C>A
CA412363683
NM_001037343.2:c.1890C>G