Allele Registry

Canonical Allele Identifier: PA915977901

Gene: SLC12A3 HGNC NCBI

ClinVar RCV:

RCV000009123

RCV000820759

ClinVar Variation:

8592

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119580.2:p.Pro349Leu	CA119776 NM_001126108.2:c.1046C>T