Canonical Allele Identifier: PA2580287700
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2001293
ClinVar RCV Id: RCV002811104
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.His317Gln
CA412356385
NM_003159.2:c.951T>A
CA412356389
NM_003159.2:c.951T>G