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: PA2573173012

Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1436343

ClinVar RCV Id: RCV002002080

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000882.1:p.Arg46Cys	CA400859943 NM_000891.3:c.136C>T