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: PA2580117823

Gene: KCNJ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1778733

ClinVar RCV Id: RCV002399049

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000882.1:p.Gln57His	CA400860026 NM_000891.3:c.171G>C CA400860027 NM_000891.3:c.171G>T