Canonical Allele Identifier: PA658673869
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 464810
ClinVar RCV Id: RCV000547851
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Met577Ile
CA10360412
NM_003159.2:c.1731G>T
CA412362468
NM_003159.2:c.1731G>A
CA412362469
NM_003159.2:c.1731G>C