Allele Registry

Canonical Allele Identifier: PA1139669996

Gene: KCNJ11 HGNC NCBI

ClinVar RCV:

RCV001174373

RCV002227252

RCV002505753

ClinVar Variation:

917414

HGVS (amino-acid)	Matching Registered Transcripts
NP_000516.3:p.Gln348His	CA5902193 NM_000525.4:c.1044G>C CA379769363 NM_000525.4:c.1044G>T