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: PA2828710634

Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 284061

ClinVar RCV Id: RCV000310078 RCV002227115

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001364226.1:p.Arg108del