Allele Registry

Canonical Allele Identifier: PA915978047

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000449562

RCV001239291

ClinVar Variation:

397523

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Arg642Gly	CA8069650 NM_001126108.2:c.1924C>G