Allele Registry

Canonical Allele Identifier: PA1139677129

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV001215299

RCV001833878

ClinVar Variation:

944812

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Arg642Cys	CA8069651 NM_001126108.2:c.1924C>T