Allele Registry

Canonical Allele Identifier: PA351329

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV000779167

RCV000992996

ClinVar Variation:

242488

HGVS (amino-acid)	Matching Registered Transcripts
NP_000329.2:p.Ala508Thr	CA351328 NM_000338.3:c.1522G>A