Canonical Allele Identifier: PA2825380361
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 419920
ClinVar RCV Id: RCV000484294 RCV001312883
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Thr599Ala
CA16621280
NM_001037343.2:c.1795A>G