Allele Registry

Canonical Allele Identifier: PA915961071

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000517299

RCV001271446

ClinVar Variation:

448395

HGVS (amino-acid)	Matching Registered Transcripts
NP_000330.3:p.Cys994Tyr	CA8070172 NM_000339.3:c.2981G>A