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: PA170501

Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 143830

ClinVar RCV Id: RCV000133381 RCV000640488

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003150.1:p.Leu220Pro	CA170500 NM_003159.2:c.659T>C