Allele Registry

Canonical Allele Identifier: PA915977939

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000517680

RCV000762972

ClinVar Variation:

448391

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Arg399Cys	CA8069396 NM_001126108.2:c.1195C>T