Canonical Allele Identifier: PA2825380446
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1013832
ClinVar RCV Id: RCV001312479 RCV001843581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Gly746Arg
CA412368355
NM_001037343.2:c.2236G>A
CA412368357
NM_001037343.2:c.2236G>C