Allele Registry

Canonical Allele Identifier: PA2825143404

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000009122

RCV001046660

ClinVar Variation:

8591

HGVS (amino-acid)	Matching Registered Transcripts
NP_000330.3:p.Ala588Val	CA119774 NM_000339.3:c.1763C>T