Canonical Allele Identifier: PA2827187197
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143827
ClinVar RCV Id: RCV000145544 RCV000416982 RCV000431821 RCV000812193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Ser196Leu
CA171650
NM_001323289.2:c.587C>T