Canonical Allele Identifier: PA171636
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 94109
ClinVar RCV Id: RCV000080070 RCV000145536 RCV001370652 RCV002514406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Gly885Arg
CA171635
NM_003159.2:c.2653G>A
CA412367703
NM_003159.2:c.2653G>C