Canonical Allele Identifier: PA2825380400
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1040215
ClinVar RCV Id: RCV001343818
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Thr672Ser
CA412366046
NM_001037343.2:c.2014A>T
CA412366052
NM_001037343.2:c.2015C>G