Canonical Allele Identifier: PA240507
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 194499
ClinVar RCV Id: RCV000174879 RCV000764870 RCV001512607 RCV003165363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Asn748Ser
CA240506
NM_003159.2:c.2243A>G