Canonical Allele Identifier: PA2827187427
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 156684
ClinVar RCV Id: RCV001206862 RCV004532635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Gly546Arg
CA294753
NM_001323289.2:c.1636G>A
CA412362054
NM_001323289.2:c.1636G>C