Allele Registry

Canonical Allele Identifier: PA915961063

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000405253

RCV001520642

RCV001701952

ClinVar Variation:

319917

HGVS (amino-acid)	Matching Registered Transcripts
NP_000330.3:p.Arg928Cys	CA8070053 NM_000339.3:c.2782C>T