Allele Registry

Canonical Allele Identifier: PA2825598244

Gene: SLC12A3 HGNC NCBI

ClinVar Allele:

341943

ClinVar RCV:

RCV000405253

RCV001520642

RCV001701952

ClinVar Variation:

319917

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Arg919Cys	CA8070053 NM_001126108.2:c.2755C>T