Allele Registry

Canonical Allele Identifier: PA915995921

Gene: SLC12A1 HGNC NCBI

ClinVar RCV:

RCV000779167

RCV000992996

ClinVar Variation:

242488

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171761.1:p.Ala508Thr	CA351328 NM_001184832.2:c.1522G>A