Allele Registry

Canonical Allele Identifier: PA172343

Gene: KCNJ11 HGNC NCBI

ClinVar RCV:

RCV000146117

RCV002226687

RCV003338421

RCV003556188

ClinVar Variation:

158683

HGVS (amino-acid)	Matching Registered Transcripts
NP_000516.3:p.Glu229Lys	CA172342 NM_000525.4:c.685G>A