Allele Registry

Canonical Allele Identifier: PA2828710490

Gene: KCNJ11 HGNC NCBI

ClinVar Allele:

546452

ClinVar RCV:

RCV000667888

RCV002226726

RCV002493096

RCV002530727

ClinVar Variation:

552596

HGVS (amino-acid)	Matching Registered Transcripts
NP_001364225.1:p.Val198Ile	CA5902232 NM_001377296.1:c.592G>A