Allele Registry

Canonical Allele Identifier: PA915996002

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV000248948

RCV000576385

RCV001512478

ClinVar Variation:

255874

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171761.1:p.Val958Ala	CA7547535 NM_001184832.2:c.2873T>C