Canonical Allele Identifier: PA2827187151
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 986231
ClinVar RCV Id: RCV001267534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310218.1:p.Glu162Asp
CA10360275
NM_001323289.2:c.486A>C
CA412352214
NM_001323289.2:c.486A>T