Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2827187115

Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2578405

ClinVar RCV Id: RCV003326181

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310218.1:p.Arg134Pro	CA412350434 NM_001323289.2:c.401G>C