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: PA2828710433

Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2146733

ClinVar RCV Id: RCV003067279

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364225.1:p.Lys135Gln	CA5902265 NM_001377296.1:c.403A>C