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: PA2827187296

Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2097961

ClinVar RCV Id: RCV003019068

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310218.1:p.His338Tyr	CA10360336 NM_001323289.2:c.1012C>T