Canonical Allele Identifier: PA2827187221
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 189549
ClinVar RCV Id: RCV000169988 RCV000622992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Gln219Pro
CA199370
NM_001323289.2:c.656A>C