Allele Registry

Canonical Allele Identifier: PA645508044

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV000248948

RCV000576385

RCV001512478

ClinVar Variation:

255874

HGVS (amino-acid)	Matching Registered Transcripts
NP_000329.2:p.Val958Ala	CA7547535 NM_000338.3:c.2873T>C