Allele Registry

Canonical Allele Identifier: PA915978118

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000190624

RCV000255367

RCV000626663

RCV001328096

RCV003401040

RCV004017477

ClinVar Variation:

208612

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Gly741Arg	CA204579 NM_001126108.2:c.2221G>A CA395994702 NM_001126108.2:c.2221G>C