Canonical Allele Identifier: PA2580214845
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136156
ClinVar RCV Id: RCV003037030
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Gln929His
CA412368975
NM_001323289.2:c.2787G>C
CA412368978
NM_001323289.2:c.2787G>T